ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.942C>A (p.Cys314Ter)

gnomAD frequency: 0.00006  dbSNP: rs752714222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000857239 SCV000999826 pathogenic Autosomal recessive nonsyndromic hearing loss 42 2018-08-09 criteria provided, single submitter clinical testing This variant is present in a homozygous state, the parents are consanguinous
Invitae RCV003558622 SCV004293144 pathogenic not provided 2023-04-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 695027). This premature translational stop signal has been observed in individual(s) with autosomal recessive deafness (PMID: 26226137). This variant is present in population databases (rs752714222, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Cys314*) in the ILDR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ILDR1 are known to be pathogenic (PMID: 21255762).

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