ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.22A>G (p.Thr8Ala)

gnomAD frequency: 0.00001  dbSNP: rs771657671
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000636848 SCV000758289 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 8 of the SGCG protein (p.Thr8Ala). This variant is present in population databases (rs771657671, gnomAD 0.04%). 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: 530808). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV004025483 SCV004947555 uncertain significance Inborn genetic diseases 2021-08-28 criteria provided, single submitter clinical testing The c.22A>G (p.T8A) alteration is located in exon 2 (coding exon 1) of the SGCG gene. This alteration results from a A to G substitution at nucleotide position 22, causing the threonine (T) at amino acid position 8 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000636848 SCV002086083 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2019-11-11 no assertion criteria provided clinical testing

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