ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1662A>G (p.Lys554=)

gnomAD frequency: 0.00003  dbSNP: rs752270974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001501436 SCV001706249 likely benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2022-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405189 SCV002706550 uncertain significance Cardiovascular phenotype 2023-06-14 criteria provided, single submitter clinical testing The c.1662A>G variant (also known as p.K554K),is located in coding exon 12 of the NEXN gene. This variant results from an A to G substitution at nucleotide position 1662. This nucleotide substitution does not change the lysine at codon 554. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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