ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.837C>A (p.Phe279Leu)

gnomAD frequency: 0.00001  dbSNP: rs760569935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303903 SCV001493169 uncertain significance Multiple gastrointestinal atresias 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 279 of the TTC7A protein (p.Phe279Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs760569935, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002539536 SCV003725825 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.837C>A (p.F279L) alteration is located in exon 6 (coding exon 6) of the TTC7A gene. This alteration results from a C to A substitution at nucleotide position 837, causing the phenylalanine (F) at amino acid position 279 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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