ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.170C>T (p.Thr57Met)

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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 RCV002615241 SCV003496737 uncertain significance Glycogen storage disease type X 2022-02-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 57 of the PGAM2 protein (p.Thr57Met). This variant is present in population databases (rs758416574, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PGAM2-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 RCV004068892 SCV005002524 uncertain significance Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing The c.170C>T (p.T57M) alteration is located in exon 1 (coding exon 1) of the PGAM2 gene. This alteration results from a C to T substitution at nucleotide position 170, causing the threonine (T) at amino acid position 57 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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