Submissions for variant NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002633695	SCV003515058	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2D	2022-05-29	criteria provided, single submitter	clinical testing	This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 10 of the SGCA protein (p.Leu10Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. 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.
Revvity Omics, Revvity	RCV002633695	SCV004237231	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2D	2023-06-01	criteria provided, single submitter	clinical testing