ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1030A>C (p.Thr344Pro)

dbSNP: rs1285454398
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648185 SCV000769999 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2022-09-01 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Thr344 amino acid residue in POMT2. Other variant(s) that disrupt this residue have been observed in individuals with POMT2-related conditions (PMID: 29175898), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 538736). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy and/or POMT2-related conditions (PMID: 29175898, 32528171). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 344 of the POMT2 protein (p.Thr344Pro).

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