ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) (rs267607574)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852590 SCV000995292 likely benign Primary dilated cardiomyopathy 2019-05-14 criteria provided, single submitter clinical testing
Color Health, Inc RCV001182567 SCV001348062 uncertain significance Cardiomyopathy 2019-08-23 criteria provided, single submitter clinical testing
Invitae RCV001303998 SCV001493265 uncertain significance Charcot-Marie-Tooth disease, type 2 2020-08-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 318 of the LMNA protein (p.Ala318Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with dilated cardiomyopathy (PMID: 30012837). ClinVar contains an entry for this variant (Variation ID: 66961). Experimental studies have shown that this variant does not substantially affect LMNA protein function (PMID: 20160190). 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.
GeneDx RCV000057491 SCV001772187 uncertain significance not provided 2020-09-14 criteria provided, single submitter clinical testing Reported in one patient with DCM; however, it did not co-segregate with disease in this family (Parks et al., 2008); Reported in ClinVar (ClinVar Variant ID# 66961; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30847666, 20160190, 30012837, 18585512, 21639948, 24846508, 22224630)
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057491 SCV000088605 not provided not provided no assertion provided not provided
University of Washington Center for Mendelian Genomics, University of Washington RCV000852590 SCV001434745 uncertain significance Primary dilated cardiomyopathy no assertion criteria provided research

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