ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.623G>T (p.Gly208Val)

gnomAD frequency: 0.00002  dbSNP: rs778119056
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315172 SCV001505730 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 208 of the SGCG protein (p.Gly208Val). This variant is present in population databases (rs778119056, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1016199). 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 expected to disrupt SGCG 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.
Ambry Genetics RCV002543666 SCV003692861 uncertain significance Inborn genetic diseases 2024-07-16 criteria provided, single submitter clinical testing The c.623G>T (p.G208V) alteration is located in exon 7 (coding exon 6) of the SGCG gene. This alteration results from a G to T substitution at nucleotide position 623, causing the glycine (G) at amino acid position 208 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001315172 SCV003819942 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-03-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001315172 SCV002086108 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-02-21 no assertion criteria provided clinical testing

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