# NM_153700.2(STRC):c.(?_4702)_(4993_?)del

https://sugi.bio/variant/strc-c-4702

## Summary

**STRC c.(?_4702** is classified **Pathogenic** in STRC (ClinVar, Single submitter, 1 submitter; last evaluated 2014-03-04). Associated with Rare genetic deafness.

**At a glance:** Pathogenic · review: Single submitter · 1 submitter · 1 linked condition

## For patients & families {#patients}

This is a change in the STRC gene that is reported as disease-causing, but on limited review, submitted by 1 submitter, and is linked to Rare genetic deafness.

*Reference information, not medical advice, and not a prediction for any individual. A genetic counselor or clinician can interpret what it means for you and your family.*

**Support & next steps:** [Find a genetic counselor (NSGC)](https://findageneticcounselor.nsgc.org/).

## Identity {#identity}

| Field | Value |
| --- | --- |
| Gene | [STRC](https://sugi.bio/atlas/gene/STRC/) |
| Coding change (HGVS c.) | c.(?_4702 |
| MANE Select transcript | [NM_153700](https://www.ncbi.nlm.nih.gov/nuccore/NM_153700) |
| Variant type | Deletion |
| Location | chr15:None-None (GRCh38) |
| ClinVar | [VCV165296](https://www.ncbi.nlm.nih.gov/clinvar/variation/165296/) |

**All HGVS expressions:** `NC_000015.10:g.(?_43600534)_(43601014_?)del`, `NC_000015.9:g.(?_43892732)_(43893212_?)del`, `NM_153700.2:c.(?_4702)_(4993_?)del`

## Gene constraint & dosage {#gene-context}

**STRC** population constraint: LOEUF 0.713, pLI 3.8356e-06, missense-Z 2.7229. *Lower LOEUF and higher pLI indicate a gene that tolerates loss-of-function poorly; ClinGen dosage is the curated haploinsufficiency call.*

Curated gene–disease validity (ClinGen):

- **nonsyndromic genetic hearing loss** — Definitive (AR)

## Protein context {#protein}


AlphaFold model confidence (whole protein): pLDDT 69.21, 18% of residues very-high.

## What this gene does {#gene-function}

*Describes the biological roles of STRC (the gene this variant disrupts) — not effects measured for this specific variant. A damaging variant is expected to affect these functions and pathways; the degree depends on the variant.*


### Pathways affected {#pathways}

STRC participates in **2 Reactome pathways** (⚕ = disease pathway):

| Pathway (Reactome) | Evidence |
| --- | --- |
| [Sensory processing of sound by inner hair cells of the cochlea](https://reactome.org/content/detail/R-HSA-9662360) | other |
| [Sensory processing of sound by outer hair cells of the cochlea](https://reactome.org/content/detail/R-HSA-9662361) | other |

## Clinical significance {#significance}

**Pathogenic** — review status Single submitter *(criteria provided, single submitter)*, last evaluated 2014-03-04.

**Submitter consensus:** unanimous (1/1 Pathogenic).

### Submitter classifications {#submitters}

| Submitter | Classification | Review | Method | Date |
| --- | --- | --- | --- | --- |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Pathogenic | criteria provided, single submitter | clinical testing | 2014-03-04 |

## Associated conditions {#conditions}

[Rare genetic deafness](https://sugi.bio/atlas/disease/rare-genetic-deafness/).

**Reported phenotype names (ClinVar):** Rare genetic deafness.

## Similar variants {#similar}

Related STRC variant pages (same residue, condition, or type): [STRC c.(?_3795](/variant/strc-c-3795), [STRC p.Ile1203fs](/variant/strc-p-ile1203fs), [STRC p.Leu786fs](/variant/strc-p-leu786fs), [STRC p.Trp1162fs](/variant/strc-p-trp1162fs), [STRC p.Arg1224Ter](/variant/strc-p-arg1224ter), [STRC p.Arg1468Ter](/variant/strc-p-arg1468ter), [STRC p.Gln1168fs](/variant/strc-p-gln1168fs), [STRC p.Glu1399Ter](/variant/strc-p-glu1399ter).

### Data sources & attribution {#sources}

ClinVar (NCBI — public domain, built 2026-10-14); gnomAD v4.1 (Broad Institute, built 2026-10-14); AlphaMissense (Cheng et al. 2023, © Google DeepMind — CC BY 4.0, built 2026-01-27); REVEL (Ioannidis et al. 2016 — ODbL, built 2026-07-13); SaProt (Su et al. 2023 — MIT, built 2026-10-14); SpliceAI (Illumina — free for non-commercial use, built 2026-10-13); CADD (Rentzsch et al. 2019, University of Washington — free for non-commercial use, built 2026-10-10); Conservation (phyloP/phastCons/GERP) (UCSC hg38 470-way mammal (Hiller Lab) + Ensembl Compara, built 2026-07-12); gnomAD Non-coding Constraint (Gnocchi) (Chen et al. 2024, Broad Institute — CC0, built 2026-10-11); gnomAD Regional Missense Constraint (Broad Institute — CC0, built 2026-10-13); Pangolin (Zeng & Li 2022 — CC BY 4.0, built 2026-10-11); Repeat regions (UCSC — RepeatMasker, TRF, segmental duplications, built 2026-10-11); ClinGen (ClinGen, built 2026-09-22); UniProt (CC BY 4.0); Reactome / GO (CC BY 4.0, built 2026-09-23); MaveDB (per-record license, built 2026-10-11); CIViC (CC0, built 2026-09-22); Orphanet (Orphanet, built 2026-06-12)

*Primary record: NCBI ClinVar (variation 165296). Classifications reflect these databases as of the page's build date and may change. Free reference use — not medical advice; consult the primary submitters and a clinician.*