Submissions for variant NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn)

gnomAD frequency: 0.00001  dbSNP: rs886043408

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000343076	SCV000339934	uncertain significance	not provided	2016-02-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001360775	SCV001556709	uncertain significance	Bethlem myopathy 1A	2023-08-04	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: 286490). This missense change has been observed in individual(s) with clinical suspicion of limb-girdle muscular dystrophy (PMID: 30564623). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 588 of the COL6A3 protein (p.Asp588Asn).
Department of Neurology, Xijing Hospital, Fourth Military Medical University	RCV002295296	SCV002553247	uncertain significance	Dystonia 27	2022-03-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000343076	SCV003834201	uncertain significance	not provided	2019-04-10	criteria provided, single submitter	clinical testing