ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs)

dbSNP: rs1555351894
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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 RCV000648178 SCV000769992 pathogenic 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 2023-10-03 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the POMT2 gene (p.Thr585Argfs*194). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 166 amino acid(s) of the POMT2 protein and extend the protein by 27 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POMT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 538732). This variant disrupts a region of the POMT2 protein in which other variant(s) (p.Trp748Arg) have been determined to be pathogenic (PMID: 17634419, 17869517). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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