ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1432G>A (p.Asp478Asn) (rs1309129145)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618386 SCV000740190 uncertain significance Cardiovascular phenotype 2017-07-13 criteria provided, single submitter clinical testing The p.D478N variant (also known as c.1432G>A), located in coding exon 10 of the NEXN gene, results from a G to A substitution at nucleotide position 1432. The aspartic acid at codon 478 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001066584 SCV001231599 uncertain significance Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 478 of the NEXN protein (p.Asp478Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEXN-related conditions. ClinVar contains an entry for this variant (Variation ID: 520368). 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: Probably 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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