ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.1301C>T (p.Pro434Leu)

dbSNP: rs760257421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002255063 SCV002526341 uncertain significance not provided 2024-08-20 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488635 SCV002775473 uncertain significance Autosomal recessive nonsyndromic hearing loss 42 2021-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002255063 SCV003284199 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing This variant is present in population databases (rs760257421, gnomAD 0.08%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 434 of the ILDR1 protein (p.Pro434Leu). This variant has not been reported in the literature in individuals affected with ILDR1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1691657).

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