ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.-2-226T>C

gnomAD frequency: 0.00034  dbSNP: rs373825865
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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 RCV000652186 SCV000774054 uncertain significance Immunodeficiency 23 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 10 of the PGM3 protein (p.Ile10Thr). This variant is present in population databases (rs373825865, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PGM3-related conditions. ClinVar contains an entry for this variant (Variation ID: 541846). 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: "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.
Ambry Genetics RCV002531994 SCV003693412 uncertain significance Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing The c.29T>C (p.I10T) alteration is located in exon 2 (coding exon 1) of the PGM3 gene. This alteration results from a T to C substitution at nucleotide position 29, causing the isoleucine (I) at amino acid position 10 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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