ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.841G>C (p.Val281Leu)

gnomAD frequency: 0.00001  dbSNP: rs147514908
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821961 SCV000962737 uncertain significance Multiple gastrointestinal atresias 2023-08-04 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 663977). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (rs147514908, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 281 of the TTC7A protein (p.Val281Leu).

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