ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp)

gnomAD frequency: 0.00050  dbSNP: rs140567004
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Total submissions: 6
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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 RCV000613230 SCV000711075 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg433Trp var iant in ILDR1 has not been previously reported in patients with hearing loss. It has been identified in 0.2% (19/10134) of African chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs140567004); ho wever, its frequency is not high enough to rule out a pathogenic role. Computati onal prediction tools and conservation analysis suggest that the p.Arg433Trp var iant may not impact the protein, though this information is not predictive enoug h to rule out pathogenicity. In summary, while the clinical significance of the p.Arg433Trp variant is uncertain, available data suggest that it is more likely to be benign.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270067 SCV001448836 uncertain significance Autosomal recessive nonsyndromic hearing loss 42 2019-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854134 SCV002175931 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 433 of the ILDR1 protein (p.Arg433Trp). This variant is present in population databases (rs140567004, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ILDR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 504596). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001270067 SCV004563262 uncertain significance Autosomal recessive nonsyndromic hearing loss 42 2023-08-21 criteria provided, single submitter clinical testing
GeneDx RCV001854134 SCV005079237 uncertain significance not provided 2023-12-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV001854134 SCV005189736 uncertain significance not provided criteria provided, single submitter not provided

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