ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.4494C>A (p.Phe1498Leu)

dbSNP: rs374996667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330059 SCV001521652 uncertain significance Autosomal dominant nonsyndromic hearing loss 12 2019-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001859271 SCV002285477 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1028888). This variant has not been reported in the literature in individuals affected with TECTA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1498 of the TECTA protein (p.Phe1498Leu). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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