ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2534G>A (p.Ser845Asn)

gnomAD frequency: 0.00001  dbSNP: rs1334106336
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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 RCV001062279 SCV001227066 uncertain significance Multiple gastrointestinal atresias 2019-12-15 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 845 of the TTC7A protein (p.Ser845Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. 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 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 C0"). This variant has not been reported in the literature in individuals with TTC7A-related conditions. This variant is not present in population databases (ExAC no frequency).

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