ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.149G>A (p.Arg50Gln)

gnomAD frequency: 0.00004  dbSNP: rs758175735
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242840 SCV001415955 uncertain significance Glycogen storage disease, type V 2022-05-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 50 of the PYGM protein (p.Arg50Gln). This variant is present in population databases (rs758175735, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PYGM-related conditions. ClinVar contains an entry for this variant (Variation ID: 967832). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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 RCV002564046 SCV003725100 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.149G>A (p.R50Q) alteration is located in exon 1 (coding exon 1) of the PYGM gene. This alteration results from a G to A substitution at nucleotide position 149, causing the arginine (R) at amino acid position 50 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001242840 SCV003810357 uncertain significance Glycogen storage disease, type V 2020-09-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001242840 SCV002092352 uncertain significance Glycogen storage disease, type V 2020-12-18 no assertion criteria provided clinical testing

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