Is KY p.Val18fs (c.51_52insTATCGACATG…[28 bp]) pathogenic?

KY p.Val18fs (c.5152insTATCGACATG…[28 bp]) is classified Pathogenic in KY (ClinVar, Single submitter, 2 submitters; last evaluated 2026-08-27). No gnomAD frequency available for this variant; Associated with myofibrillar myopathy 7.

What condition is associated with KY p.Val18fs (c.51_52insTATCGACATG…[28 bp])?

KY p.Val18fs (c.51_52insTATCGACATG…[28 bp]) is associated with myofibrillar myopathy 7, hereditary spastic paraplegia (ClinVar).

How common is KY p.Val18fs (c.51_52insTATCGACATG…[28 bp]) in the general population?

KY p.Val18fs (c.51_52insTATCGACATG…[28 bp]) is no gnomAD frequency available for this variant (gnomAD).

KY p.Val18fs

c.51_52insTATCGACATG…[28 bp] · rs1085307110 · VCV402246

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

myofibrillar myopathy 7

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 7.4	GERP 1.5, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: KY
Protein: p.Val18fs
Coding: c.51_52insTATCGACATGTGCTGTATCTATCGACAT
MANE Select: NM_001353108 · reported on NM_178554
dbSNP: rs1085307110
Type: Insertion
Location: chr3:134650909 (GRCh38)

Full KY gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

myofibrillar myopathy 7 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hereditary spastic paraplegia

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/ky-p-val18fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown