ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.324del (p.Val109fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447662 SCV004175197 likely pathogenic Sick sinus syndrome 2023-01-30 criteria provided, single submitter clinical testing The LMNA c.324del variant is classified as Likely Pathogenic (PVS1, PM2) The LMNA c.324del variant is located in exon 1/12 and is predicted to cause a shift in the reading frame at codon 109, introducing a premature termination codon 8 amino acids downstream (PVS1). Loss of function is a known disease mechanism for LMNA and is associated with multiple cardiac related diseases including dilated cardiomyopathy, ventricular tachycardia, conduction disease and sick sinus syndrome (PMID#29947763, 27182706, 31847799, 34831398). This variant is absent from population databases (PM2) and has not been reported in dbSNP, ClinVar or HGMD although there are multiple reports of frameshift and nonsense variants more 3' than this variant in LMNA.

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