ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.601T>G (p.Phe201Val)

gnomAD frequency: 0.00016  dbSNP: rs142318183
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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 RCV001989751 SCV002236202 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 201 of the GYG1 protein (p.Phe201Val). This variant is present in population databases (rs142318183, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1449684). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GYG1 protein function. 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 RCV002563564 SCV003671645 uncertain significance Inborn genetic diseases 2022-12-05 criteria provided, single submitter clinical testing The c.601T>G (p.F201V) alteration is located in exon 5 (coding exon 5) of the GYG1 gene. This alteration results from a T to G substitution at nucleotide position 601, causing the phenylalanine (F) at amino acid position 201 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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