ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.610T>C (p.Phe204Leu)

gnomAD frequency: 0.00008  dbSNP: rs567161281
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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 RCV001944060 SCV002212222 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 204 of the GYG1 protein (p.Phe204Leu). This variant is present in population databases (rs567161281, gnomAD 0.01%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV003167363 SCV003892935 uncertain significance Inborn genetic diseases 2023-02-09 criteria provided, single submitter clinical testing The c.610T>C (p.F204L) alteration is located in exon 6 (coding exon 6) of the GYG1 gene. This alteration results from a T to C substitution at nucleotide position 610, causing the phenylalanine (F) at amino acid position 204 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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