ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=)

gnomAD frequency: 0.00001  dbSNP: rs369318229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521283 SCV000621069 uncertain significance not provided 2023-08-02 criteria provided, single submitter clinical testing Has been observed multiple times in cis with p.(P509L) in patients with hearing loss referred to GeneDx for genetic testing; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195197 SCV001365503 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gly520Gly in exon 7 of ILDR1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.07% (4/5800) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369318229).
Invitae RCV000521283 SCV002432058 likely benign not provided 2023-11-20 criteria provided, single submitter clinical testing

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