Is MYRF p.Val505= (c.1515G>T) pathogenic?

MYRF p.Val505= (c.1515G>T) is classified Uncertain significance in MYRF (ClinVar, Single submitter, 1 submitter; last evaluated 2022-12-15). No allele count reported in gnomAD v4.1 (AN 1,603,724); Associated with cardiac-urogenital syndrome.

What condition is associated with MYRF p.Val505= (c.1515G>T)?

MYRF p.Val505= (c.1515G>T) is associated with cardiac-urogenital syndrome (ClinVar).

How common is MYRF p.Val505= (c.1515G>T) in the general population?

MYRF p.Val505= (c.1515G>T) is no allele count reported in gnomAD v4.1 (AN 1,603,724) (gnomAD).

How is Cardiac-urogenital syndrome inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

MYRF p.Val505=

c.1515G>T · rs1382325914 · VCV2441854

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,603,724)

Conditions

cardiac-urogenital syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.41	acceptor gain · deltas
Pangolin	Δ0.29	gain · loss 0.07 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP 3.4	GERP -2.8, phastCons 1
Overall
CADD	17.1	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,603,724). 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: MYRF
Protein: p.Val505=
Coding: c.1515G>T
MANE Select: NM_001127392
dbSNP: rs1382325914
Type: single nucleotide variant
Location: chr11:61776802 (GRCh38)
Gene constraint: LOEUF 0.215 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 61.76 · 2 PDB
Residue 505: a DNA-binding region; a β-strand

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

Disease context

cardiac-urogenital syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Cardiac-urogenital syndrome (Orphanet):

Inheritance: Autosomal dominant

Similar variants

MYRF p.Gln150Ter Pathogenic/Likely pathogenic ★★ same condition
MYRF p.Trp939Ter Pathogenic ★★ same condition
MYRF p.Ala1001Ser Uncertain significance ★★ ⚠ same condition
MYRF p.Glu421Lys Uncertain significance ★★ ⚠ same condition
MYRF p.Thr892Ala Uncertain significance ★★ ⚠ same condition
MYRF c.2247+3A>C Likely pathogenic ★ same condition
MYRF c.2572+1G>A Pathogenic ★ same condition
MYRF c.46+5G>A Likely pathogenic ★ same condition

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/myrf-p-val505 (accessed [today's date]).

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