ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.175A>G (p.Ile59Val)

gnomAD frequency: 0.00006  dbSNP: rs535548906
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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 RCV001949976 SCV002202438 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-04-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 59 of the GYG1 protein (p.Ile59Val). This variant is present in population databases (rs535548906, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV001949976 SCV002816892 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2021-07-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041876 SCV004881934 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.175A>G (p.I59V) alteration is located in exon 3 (coding exon 3) of the GYG1 gene. This alteration results from a A to G substitution at nucleotide position 175, causing the isoleucine (I) at amino acid position 59 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693991 SCV005189827 uncertain significance not provided criteria provided, single submitter not provided

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