ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.535C>A (p.Pro179Thr)

dbSNP: rs587783832
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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 RCV001327875 SCV001518968 uncertain significance Severe X-linked myotubular myopathy 2022-06-20 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 is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 179 of the MTM1 protein (p.Pro179Thr). This missense change has been observed in individual(s) with clinical features of centronuclear myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 1027300). 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 expected to disrupt MTM1 protein function. This variant disrupts the p.Pro179 amino acid residue in MTM1. Other variant(s) that disrupt this residue have been observed in individuals with MTM1-related conditions (PMID: 10502779), which suggests that this may be a clinically significant amino acid residue.

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