Submissions for variant NM_000337.6(SGCD):c.358A>G (p.Lys120Glu)

dbSNP: rs956992133

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000729155	SCV000856797	uncertain significance	not provided	2017-09-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001246831	SCV001420218	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2F	2023-07-17	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. This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 120 of the SGCD protein (p.Lys120Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 593968). 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 SGCD protein function.
Revvity Omics, Revvity	RCV000729155	SCV003827645	uncertain significance	not provided	2020-02-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001246831	SCV003931830	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2F	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233843	SCV003931831	uncertain significance	Dilated cardiomyopathy 1L	2023-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004965717	SCV005497446	uncertain significance	Inborn genetic diseases	2024-12-04	criteria provided, single submitter	clinical testing	The c.358A>G (p.K120E) alteration is located in exon 5 (coding exon 4) of the SGCD gene. This alteration results from a A to G substitution at nucleotide position 358, causing the lysine (K) at amino acid position 120 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.