ClinVar Miner

Submissions for variant NM_004517.4(ILK):c.157T>A (p.Leu53Met)

gnomAD frequency: 0.00049  dbSNP: rs200336608
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000757406 SCV000235918 likely benign not provided 2020-03-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28831623, 27662471, 27016271)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757406 SCV000885614 uncertain significance not provided 2017-10-22 criteria provided, single submitter clinical testing The p.Leu53Met variant (rs200336608) was reported in one family investigated for dilated cardiomyopathy (DCM); however this variant did not segregate with affected individuals (Begay, 2016). This variant is listed in the Genome Aggregation Database (gnomAD) with a population frequency of 0.3 percent in the European Finnish population (identified on 82 out of 25,792 chromosomes), and has been reported to the ClinVar database as a variant of uncertain significance (Variation ID: 180371). The leucine at position 53 is highly conserved considering 13 species (Alamut v2.10) and computational analyses of the p.Leu53Met variant on protein structure and function indicate a deleterious effect (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Leu53Met variant with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV000157246 SCV001002812 benign Primary familial hypertrophic cardiomyopathy 2023-10-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157246 SCV000206976 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-12-20 no assertion criteria provided clinical testing

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