ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val)

gnomAD frequency: 0.00027  dbSNP: rs199510686
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152947 SCV000202378 uncertain significance not provided 2014-04-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281132 SCV000363695 uncertain significance Usher syndrome type 1D 2018-01-13 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 Laboratory Services, Illumina RCV000338523 SCV000363696 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2018-01-13 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.
Invitae RCV000152947 SCV002164818 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352781 SCV004052015 uncertain significance Inborn genetic diseases 2023-07-29 criteria provided, single submitter clinical testing The c.3301A>G (p.I1101V) alteration is located in exon 28 (coding exon 27) of the CDH23 gene. This alteration results from a A to G substitution at nucleotide position 3301, causing the isoleucine (I) at amino acid position 1101 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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