ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.16G>A (p.Ala6Thr)

gnomAD frequency: 0.00046  dbSNP: rs138415849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001929959 SCV002130653 uncertain significance not provided 2022-09-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 6 of the TRIT1 protein (p.Ala6Thr). This variant is present in population databases (rs138415849, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TRIT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1365813). 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 RCV002550359 SCV003616242 uncertain significance Inborn genetic diseases 2024-03-28 criteria provided, single submitter clinical testing The c.16G>A (p.A6T) alteration is located in exon 1 (coding exon 1) of the TRIT1 gene. This alteration results from a G to A substitution at nucleotide position 16, causing the alanine (A) at amino acid position 6 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003147689 SCV003835904 uncertain significance Combined oxidative phosphorylation deficiency 35 2022-10-22 criteria provided, single submitter clinical testing

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