ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.1260G>A (p.Leu420=)

gnomAD frequency: 0.00085  dbSNP: rs138155461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899335 SCV001043594 benign not provided 2023-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000899335 SCV005326855 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000899335 SCV001549743 uncertain significance not provided no assertion criteria provided clinical testing The TRPC6 p.Leu420Leu variant was not identified in the literature nor was it identified in ClinVar, Cosmic, or LOVD 3.0. The variant was identified in dbSNP (ID: rs138155461) and in control databases in 61 of 282760 chromosomes at a frequency of 0.000216 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 59 of 24972 chromosomes (freq: 0.002363) and Latino in 2 of 35440 chromosomes (freq: 0.000056); it was not observed in the Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), Other, and South Asian populations. The p.Leu420Leu variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. The variant occurs outside of the splicing consensus sequence and three of four in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE) predict a creation of a new 3’ splice site at c.1261. However, this information is not predictive enough to assume pathogenicity. 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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