ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) (rs554938323)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156134 SCV000205848 benign not specified 2017-05-25 criteria provided, single submitter clinical testing p.Pro1530Leu in exon 37 of CDH23: This variant is not expected to have clinical significance because it has been identified in 1% (314/30782) of South Asian chr omosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitut e.org; dbSNP rs554938323).
Illumina Clinical Services Laboratory,Illumina RCV000315265 SCV000363747 uncertain significance Deafness, autosomal recessive 12 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000367580 SCV000363748 likely benign Usher syndrome type 1D 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000918209 SCV001063511 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000315265 SCV001781494 likely benign Deafness, autosomal recessive 12 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000367580 SCV001781495 likely benign Usher syndrome type 1D 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000918209 SCV001820737 likely benign not provided 2020-08-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273546 SCV001456683 likely benign Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing

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