ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)

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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 RCV002741208 SCV003012297 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2022-08-30 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. 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 TPM3 protein function. This variant has not been reported in the literature in individuals affected with TPM3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 173 of the TPM3 protein (p.Ile173Asn).

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