ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys)

gnomAD frequency: 0.00001  dbSNP: rs376510686
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Total submissions: 2
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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 RCV000600691 SCV000711076 uncertain significance not specified 2016-06-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg431Cys var iant in ILDR1 has not been previously reported in individuals with hearing loss. This variant has been identified in 4/66006 European chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs376510686); however, its frequency is not high enough to rule out a pathogenic role. Comput ational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rul e out pathogenicity. The arginine (Arg) at position 431 is not conserved in mamm als or evolutionary distant species, raising the possibility that a change at th is position may be tolerated. In summary, while the clinical significance of the p.Arg431Cys variant is uncertain, these data suggest that it is more likely to be benign.
Fulgent Genetics, Fulgent Genetics RCV000764461 SCV000895526 uncertain significance Autosomal recessive nonsyndromic hearing loss 42 2018-10-31 criteria provided, single submitter clinical testing

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