Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000755904 | SCV000883554 | uncertain significance | not provided | 2017-07-06 | criteria provided, single submitter | clinical testing | The p.Ala328Thr variant (rs374545987) has not been reported in the medical literature. It is listed in the Exome Aggregation Consortium (ExAC) browser with an overall frequency of 0.007% (identified in 8 out of 120,060 chromosomes). The alanine at codon 328 is highly conserved considering 11 species up to Chicken (Alamut software v2.8.1), and computational analyses suggest this variant has a significant effect on CDH23 protein structure/function (SIFT: damaging, PolyPhen2: probably damaging, and Mutation Taster: disease causing). However, based on the available information, the clinical significance of the p.Ala328Thr variant cannot be determined with certainty. |
Illumina Laboratory Services, |
RCV001108342 | SCV001265568 | 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, |
RCV001108343 | SCV001265569 | 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 | RCV000755904 | SCV001413497 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000755904 | SCV001475764 | uncertain significance | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001108343 | SCV001523230 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12 | 2019-09-10 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV000755904 | SCV001982876 | uncertain significance | not provided | 2023-02-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002493374 | SCV002784195 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types | 2021-07-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003396316 | SCV004104419 | uncertain significance | CDH23-related condition | 2022-10-03 | criteria provided, single submitter | clinical testing | The CDH23 c.982G>A variant is predicted to result in the amino acid substitution p.Ala328Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.089% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-73376998-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Baylor Genetics | RCV003472273 | SCV004210622 | uncertain significance | Pituitary adenoma 5, multiple types | 2023-09-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001275419 | SCV001460569 | uncertain significance | Usher syndrome type 1 | 2020-04-11 | no assertion criteria provided | clinical testing |