ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1132A>T (p.Asn378Tyr)

dbSNP: rs1677332012
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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 RCV001340918 SCV001534752 uncertain significance Multiple gastrointestinal atresias 2020-04-20 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Possibly 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). This sequence change replaces asparagine with tyrosine at codon 378 of the TTC7A protein (p.Asn378Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine.

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