ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.7_9del (p.Asp3del) (rs760463744)

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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 RCV000617761 SCV000736410 uncertain significance Cardiovascular phenotype 2020-02-13 criteria provided, single submitter clinical testing The c.7_9delGAT variant (also known as p.D3del) is located in coding exon 1 of the NEXN gene. This variant results from an in-frame GAT deletion at nucleotide positions 7 to 9. This results in the in-frame deletion of an aspartic acid at codon 3. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001301572 SCV001490744 uncertain significance Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-08-03 criteria provided, single submitter clinical testing This variant, c.7_9del, results in the deletion of 1 amino acid(s) of the NEXN protein (p.Asp3del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760463744, ExAC 0.005%). This variant has not been reported in the literature in individuals with NEXN-related conditions. ClinVar contains an entry for this variant (Variation ID: 518850). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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