ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.848C>T (p.Ala283Val)

gnomAD frequency: 0.00002  dbSNP: rs752828560
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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 RCV001993108 SCV002231668 uncertain significance Multiple gastrointestinal atresias 2023-04-25 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TTC7A protein function. ClinVar contains an entry for this variant (Variation ID: 1451116). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (rs752828560, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 283 of the TTC7A protein (p.Ala283Val).
Ambry Genetics RCV004043985 SCV004974433 uncertain significance Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing The c.848C>T (p.A283V) alteration is located in exon 7 (coding exon 7) of the TTC7A gene. This alteration results from a C to T substitution at nucleotide position 848, causing the alanine (A) at amino acid position 283 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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