ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp) (rs374926367)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727363 SCV000292603 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing The N660D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 4,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The N660D variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.LMNA-related disorders can be inherited in an autosomal recessive or an autosomal dominant manner (De Sandre-Giovannoli et al., 2002; Bonne et al., 2004; Rankin et al., 2008). Additionally, a small number of dominantly inherited variants have been reported to have incomplete penetrance (Vytopil et al., 2002). This result is not sufficient to definitively determine whether or not this variant is a pathogenic or benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727363 SCV000707866 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing
Invitae RCV001079513 SCV000815388 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Color RCV001184766 SCV001350827 uncertain significance Cardiomyopathy 2019-11-15 criteria provided, single submitter clinical testing

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