ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) (rs372822465)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039206 SCV000062890 uncertain significance not specified 2011-01-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Gly1750Arg variant in CDH23 has not been reported in the literature nor previously identifi ed by our laboratory. This residue is conserved across species and computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Gly1750Arg variant may i mpact the protein. However, this information is not predictive enough to assume pathogenicity. It should be noted that this lab has only sequenced the CDH23 in 94 Caucasian individuals such that the full spectrum of benign variation has not yet been defined for this gene, increasing the possibility that this may be a b enign variant. In summary, the clinical significance of this variant cannot be d etermined with certainty at this time.
Illumina Clinical Services Laboratory,Illumina RCV000309122 SCV000363784 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 RCV000340535 SCV000363785 uncertain significance 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, 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.

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