Submissions for variant NM_004369.4(COL6A3):c.985G>A (p.Val329Met)

dbSNP: rs542283928

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001007810	SCV003786419	uncertain significance	Bethlem myopathy 1A	2022-01-03	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL6A3 protein function. ClinVar contains an entry for this variant (Variation ID: 689566). This missense change has been observed in individual(s) with COL6A3-related conditions (PMID: 31230720). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 329 of the COL6A3 protein (p.Val329Met).
Institute of Human Genetics, University of Wuerzburg	RCV000850319	SCV000992494	uncertain significance	Multiple joint contractures		no assertion criteria provided	clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV001007810	SCV001167501	uncertain significance	Bethlem myopathy 1A		no assertion criteria provided	research