ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) (rs114468011)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723895 SCV000203373 uncertain significance not provided 2014-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000153795 SCV000524948 likely benign not specified 2018-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000370261 SCV000373031 uncertain significance Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000370261 SCV000752183 uncertain significance Glycogen storage disease, type V 2017-12-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 283 of the PYGM protein (p.Asn283Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs114468011, ExAC 0.2%). This variant has not been reported in the literature in individuals with PYGM-related disease. ClinVar contains an entry for this variant (Variation ID: 167552). Algorithms developed to predict the effect of missense changes on protein structure and function 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.

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