ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)

gnomAD frequency: 0.00002  dbSNP: rs372095826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172716 SCV001335782 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001361718 SCV001557705 uncertain significance Charcot-Marie-Tooth disease type 4 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 47 of the MTMR2 protein (p.Ser47Pro). This variant is present in population databases (rs372095826, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MTMR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 916797). 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 MTMR2 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.

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