ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.466G>A (p.Ala156Thr)

dbSNP: rs199474714
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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 RCV001058975 SCV001223578 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2019-01-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 156 of the TPM3 protein (p.Ala156Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with nemaline myopathy (PMID: 20012312). ClinVar contains an entry for this variant (Variation ID: 140498). This variant has been reported to affect TPM3 protein function (PMID:22749829). 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.
TPM3 homepage - Leiden Muscular Dystrophy pages RCV000128698 SCV000172338 not provided not provided no assertion provided not provided

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