ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.1036G>T (p.Asp346Tyr)

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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 RCV002638040 SCV003517073 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2023-08-04 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2197883). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. This variant is present in population databases (rs141679018, gnomAD 0.05%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 346 of the GYG1 protein (p.Asp346Tyr).
Ambry Genetics RCV002638041 SCV003723482 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.1036G>T (p.D346Y) alteration is located in exon 8 (coding exon 8) of the GYG1 gene. This alteration results from a G to T substitution at nucleotide position 1036, causing the aspartic acid (D) at amino acid position 346 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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