ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1509C>G (p.Asp503Glu)

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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 RCV002604388 SCV002959229 uncertain significance Multiple gastrointestinal atresias 2022-07-03 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 503 of the TTC7A protein (p.Asp503Glu).
Ambry Genetics RCV002604389 SCV003602878 uncertain significance Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing The c.1509C>G (p.D503E) alteration is located in exon 12 (coding exon 12) of the TTC7A gene. This alteration results from a C to G substitution at nucleotide position 1509, causing the aspartic acid (D) at amino acid position 503 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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