ClinVar Miner

Submissions for variant NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser)

gnomAD frequency: 0.00001  dbSNP: rs775975702
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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 RCV000761211 SCV004521609 uncertain significance Left ventricular noncompaction 1 2023-06-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 623092). This missense change has been observed in individual(s) with left ventricular noncompaction cardiomyopathy (PMID: 29118297). This variant is present in population databases (rs775975702, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 49 of the DTNA protein (p.Asn49Ser). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. Experimental studies have shown that this missense change affects DTNA function (PMID: 29118297).
OMIM RCV000761211 SCV000891164 pathogenic Left ventricular noncompaction 1 2019-03-18 no assertion criteria provided literature only

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