ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.263C>T (p.Ala88Val)

dbSNP: rs869025455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726266 SCV000343265 uncertain significance not provided 2016-07-28 criteria provided, single submitter clinical testing
GeneDx RCV000726266 SCV000577598 uncertain significance not provided 2018-02-14 criteria provided, single submitter clinical testing The A88V variant of uncertain significance in the LMNA gene has not beenpublished as pathogenic or been reported as benign to our knowledge. This variant is not observed in largepopulation cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Thissubstitution occurs at a position that is conserved across species, and in silico analysis predicts this variant isprobably damaging to the protein structure/function. However, to our knowledge no studies have been performed todetermine the functional effect of the A88V variant. Furthermore, the A88V variant is a conservative amino acidsubstitution, which is not likely to impact secondary protein structure as these residues share similar properties.

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