Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039331 | SCV000063015 | likely benign | not specified | 2019-03-19 | criteria provided, single submitter | clinical testing | The p.Asp348Asn variant in TMPRSS3 is classified as likely benign because it has been identified in 0.1% (145/128962) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org), and computational prediction tools predict that this variant does not impact the protein. Although it has been identified by our laboratory in 8 individuals with hearing loss, none of these individuals carried a second TMPRSS3 variant, and 1 individual had an alternate genetic etiology. ACMG/AMP Criteria applied: BS1_Supporting, BP4. |
Illumina Laboratory Services, |
RCV000764256 | SCV000436163 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 8 | 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. |
Fulgent Genetics, |
RCV000764256 | SCV000895262 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 8 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001574333 | SCV001801134 | uncertain significance | not provided | 2021-04-05 | 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 |
Invitae | RCV001574333 | SCV002434501 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001574333 | SCV004225540 | uncertain significance | not provided | 2022-11-02 | criteria provided, single submitter | clinical testing | BS1_supporting |