ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro)

gnomAD frequency: 0.00021  dbSNP: rs141616288
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038489 SCV000062167 uncertain significance not specified 2014-12-24 criteria provided, single submitter clinical testing The p.Leu982Pro variant in TECTA has previously been identified by our laborator y in 1 child with hearing loss, but has also been identified in 0.021% (14/67662 ) of European chromosomes, 0.019% (2/10524) of African chromosomes, and 0.017% (2/11606) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs141616288). Although this variant has been s een in the general population, its frequency is not high enough to rule out a pa thogenic role. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Leu982Pro variant is uncertain.
Illumina Laboratory Services, Illumina RCV001106632 SCV001263712 uncertain significance Autosomal recessive nonsyndromic hearing loss 21 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 RCV001106633 SCV001263713 uncertain significance Autosomal dominant 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852805 SCV002308830 likely benign not provided 2024-04-15 criteria provided, single submitter clinical testing
GeneDx RCV001852805 SCV002758890 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31554319, 9590290, 21520338)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001852805 SCV004099028 uncertain significance not provided 2023-08-09 criteria provided, single submitter clinical testing PP3

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