ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.692A>G (p.Lys231Arg)

dbSNP: rs397516385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036355 SCV000060007 uncertain significance not specified 2012-02-13 criteria provided, single submitter clinical testing The Lys231Arg variant (TPM1) has not been reported in the literature but has bee n identified in one individual (this individual's father) by our laboratory. Co mputational analyses (biochemical amino acid properties, conservation, PolyPhen2 , SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. In the absence of additional information, the clinical significance of this vari ant cannot be determined.

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