Submissions for variant NM_000023.4(SGCA):c.58G>A (p.Asp20Asn)

gnomAD frequency: 0.00002  dbSNP: rs759284746

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000528429	SCV000649777	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2D	2022-07-19	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 20 of the SGCA protein (p.Asp20Asn). This variant is present in population databases (rs759284746, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 471336). 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 SGCA protein function. 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852721	SCV000995436	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2017-08-16	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000528429	SCV002087544	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2D	2019-11-11	no assertion criteria provided	clinical testing