ClinVar Miner

Submissions for variant NM_001386795.1(DTNA):c.1028A>T (p.Asn343Ile)

dbSNP: rs774372435
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298871 SCV001487942 uncertain significance Left ventricular noncompaction 1 2020-12-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 343 of the DTNA protein (p.Asn343Ile). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is present in population databases (rs774372435, ExAC 0.001%). This variant has not been reported in the literature in individuals with DTNA-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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