ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe)

gnomAD frequency: 0.00062  dbSNP: rs148426950
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Total submissions: 5
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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 RCV000155283 SCV000204969 likely benign not specified 2018-11-06 criteria provided, single submitter clinical testing The p.Ser501Phe variant in TECTA is classified as likely benign because it has n ot been reported in the literature, but has been identified in 0.26% (7/2670) of Bulgarian chromosomes and 0.09% (116/128954) of all European chromosomes by gno mAD (http://gnomad.broadinstitute.org). Furthermore, computational prediction to ols and conservation analysis suggest that this variant may not impact the prote in. ACMG/AMP Criteria applied: BS1_Supporting, BP4.
Illumina Laboratory Services, Illumina RCV001106424 SCV001263489 uncertain significance Autosomal dominant nonsyndromic hearing loss 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001108632 SCV001265893 uncertain significance Autosomal recessive nonsyndromic hearing loss 21 2017-05-26 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001539462 SCV001757245 uncertain significance not provided 2025-02-24 criteria provided, single submitter clinical testing Identified as a single heterozygous variant in a patient with non-syndromic hearing loss in published literature; reported as a likely benign variant (PMID: 27068579); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21520338, 9590290, 31554319, 34515852, 27068579)
Labcorp Genetics (formerly Invitae), Labcorp RCV001539462 SCV002198395 benign not provided 2023-09-22 criteria provided, single submitter clinical testing

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