ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.982G>C (p.Asp328His)

dbSNP: rs758682386
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241614 SCV001414642 uncertain significance Glycogen storage disease, type V 2019-04-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 328 of the PYGM protein (p.Asp328His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs758682386, ExAC 0.05%). This variant has not been reported in the literature in individuals with PYGM-related disease. 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.
Revvity Omics, Revvity RCV001241614 SCV003818085 uncertain significance Glycogen storage disease, type V 2019-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166506 SCV003911234 uncertain significance Inborn genetic diseases 2023-03-13 criteria provided, single submitter clinical testing The c.982G>C (p.D328H) alteration is located in exon 8 (coding exon 8) of the PYGM gene. This alteration results from a G to C substitution at nucleotide position 982, causing the aspartic acid (D) at amino acid position 328 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004793340 SCV005412360 uncertain significance not provided 2024-06-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001241614 SCV002092331 uncertain significance Glycogen storage disease, type V 2020-03-10 no assertion criteria provided clinical testing

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