ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92750T>C (p.Val30917Ala) (rs748545482)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839287 SCV000981182 likely benign not provided 2018-04-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000839287 SCV001548912 uncertain significance not provided no assertion criteria provided clinical testing The TTN p.V21977A variant was not identified in the literature nor was it identified in Cosmic or LOVD 3.0. The variant was identified in dbSNP (ID: rs748545482) and in ClinVar (classified as likely benign by GeneDx). The variant was identified in control databases in 7 of 248794chromosomes at a frequency of 0.00002814 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the South Asian population in 7 of 30602 chromosomes (freq: 0.000229), but was not observed in the African, Latino, Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), or Other populations. The p.Val21977 residue has limited species conservation data and computational analyses (BLOSUM, MutationTaster) provide inconsisted predictions regarding the impact to the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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