TRPC6 p.Asp562=
c.1686T>C · rs375248575 · VCV1531382
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00801%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.066 | GERP -3.8, phastCons 0.024 |
| Overall | ||
| CADD | 2.113 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00801%
African / African-American · 6/74,922 alleles
Filtering AF
0.00347%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00229%
Overall
0.000558%
9/1,614,028 alleles · very rare
exomes 6/1,461,842 · genomes 3/152,186 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00801% | 12,487 |
| South Asian | 0.0011% | 91,090 |
| European (non-Finnish) | 0.000169% | 590,005 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- TRPC6
- Protein
- p.Asp562=
- Coding
- c.1686T>C
- MANE Select
- NM_004621
- dbSNP
- rs375248575
- Type
- single nucleotide variant
- Location
- chr11:101476359 (GRCh38)
- Gene constraint
- LOEUF 0.708 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.98 · 6 PDB
Similar variants
- TRPC6 p.Asp562Ala Uncertain significance ★ ⚠ same residue
- TRPC6 p.Asp562Asn Uncertain significance ★ ⚠ same residue
- TRPC6 p.Arg175Gln Likely pathogenic ★★ ⚠ same type
- TRPC6 p.Arg175Trp Pathogenic/Likely pathogenic ★★ same type
- TRPC6 p.Arg895Cys Pathogenic ★★ same type
- TRPC6 p.Arg895Leu Pathogenic ★★ same type
- TRPC6 p.Gln869Ter Pathogenic/Likely pathogenic ★★ same type
- TRPC6 p.Gln889Lys Pathogenic/Likely pathogenic ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/trpc6-p-asp562 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown