ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.829C>A (p.His277Asn)

gnomAD frequency: 0.00001  dbSNP: rs747794605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224271 SCV001396459 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2023-09-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 952209). This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 277 of the TPM3 protein (p.His277Asn). This variant is present in population databases (rs747794605, gnomAD 0.006%). This missense change has been observed in individual(s) with scapular and pelvic girdle weakness, onset at 5 years of age (Invitae). 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 TPM3 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 RCV003142183 SCV003820933 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing

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