ClinVar Miner

Submissions for variant NM_001386795.1(DTNA):c.1289C>T (p.Ala430Val)

dbSNP: rs375890182
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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 RCV000689066 SCV000816704 uncertain significance Left ventricular noncompaction 1 2022-08-16 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 568642). This variant has not been reported in the literature in individuals affected with DTNA-related conditions. This variant is present in population databases (rs375890182, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 400 of the DTNA protein (p.Ala400Val).
Fulgent Genetics, Fulgent Genetics RCV000689066 SCV002792015 uncertain significance Left ventricular noncompaction 1 2021-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411602 SCV004113833 uncertain significance DTNA-related disorder 2023-03-21 criteria provided, single submitter clinical testing The DTNA c.1208C>T variant is predicted to result in the amino acid substitution p.Ala403Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-32418744-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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