ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.898A>G (p.Ile300Val) (rs114612488)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440136 SCV000527142 uncertain significance not specified 2017-01-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TRPV4 gene. The I300V variant has been reported previously in an individual with an inherited neuropathy; however, additional information was not provided (Fawcett et al., 2012). The I300V variant is observed in 23/10,350 (0.2%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. However, the I300V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000860579 SCV001000676 likely benign Charcot-Marie-Tooth disease axonal type 2C 2019-12-31 criteria provided, single submitter clinical testing

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