ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.335A>G (p.His112Arg)

dbSNP: rs1671312601
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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 RCV001218470 SCV001390352 uncertain significance Multiple gastrointestinal atresias 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 112 of the TTC7A protein (p.His112Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 947400). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002562454 SCV003534444 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.335A>G (p.H112R) alteration is located in exon 2 (coding exon 2) of the TTC7A gene. This alteration results from a A to G substitution at nucleotide position 335, causing the histidine (H) at amino acid position 112 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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