ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter)

dbSNP: rs387907017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000023783 SCV002023161 pathogenic Autosomal recessive nonsyndromic hearing loss 42 2020-10-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017263 SCV004848702 pathogenic Rare genetic deafness 2022-06-30 criteria provided, single submitter clinical testing The p.Gln195X variant in ILDR1 has been reported in 1 Iranian patient with hearing loss in the homozygous state and segregated in two affected siblings (Borck 2011 PMID: 21255762), and was absent in large population databases. This nonsense variant leads to a premature termination codon at position 195, which is predicted to lead to a truncated or absent protein. Loss of function of the ILDR1 gene is an established disease mechanism in autosomal recessive nonsyndromic hearing loss. In summary, this variant meets criteria to be classifed as pathogenic for autosomal recessive nonsyndromic hearing loss. ACMG/AMP criteria applied: PVS1, PM3_Supporting, PM2_Supporting.
OMIM RCV000023783 SCV000045074 pathogenic Autosomal recessive nonsyndromic hearing loss 42 2011-02-11 no assertion criteria provided literature only

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