ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1187C>T (p.Pro396Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002966261 SCV003277730 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 2022-09-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 396 of the POMT2 protein (p.Pro396Leu). This variant is present in population databases (rs763018692, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with POMT2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POMT2 protein function. 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.
Revvity Omics, Revvity RCV003130791 SCV003809791 uncertain significance not provided 2019-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004068104 SCV005008720 uncertain significance Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing The c.1187C>T (p.P396L) alteration is located in exon 11 (coding exon 11) of the POMT2 gene. This alteration results from a C to T substitution at nucleotide position 1187, causing the proline (P) at amino acid position 396 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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