ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.251T>C (p.Leu84Pro)

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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 RCV002982887 SCV003294009 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 84 of the GYG1 protein (p.Leu84Pro). This variant is present in population databases (rs775590691, gnomAD 0.06%). 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 disruptive. 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 RCV002995462 SCV003706445 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The c.251T>C (p.L84P) alteration is located in exon 3 (coding exon 3) of the GYG1 gene. This alteration results from a T to C substitution at nucleotide position 251, causing the leucine (L) at amino acid position 84 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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