ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.55G>T (p.Ala19Ser)

gnomAD frequency: 0.00001  dbSNP: rs148954947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002587 SCV002254127 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 19 of the GYG1 protein (p.Ala19Ser). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1471209). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. This variant is present in population databases (rs148954947, gnomAD 0.0009%).
Ambry Genetics RCV002571305 SCV003565073 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.55G>T (p.A19S) alteration is located in exon 2 (coding exon 2) of the GYG1 gene. This alteration results from a G to T substitution at nucleotide position 55, causing the alanine (A) at amino acid position 19 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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