ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu)

gnomAD frequency: 0.00165  dbSNP: rs142620954
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151380 SCV000199383 uncertain significance not specified 2014-07-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro264Leu varia nt in MYLK2 has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/8600 European American chromosomes by the NHLBI Ex ome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs142620954). P roline (Pro) at position 264 is not conserved in evolutionarily distant species and 7 fish species carry a leucine (Leu) at this position, raising the possibili ty that this change may be tolerated. In summary, while the clinical significanc e of the Pro264Leu variant is uncertain, the presence of the variant amino acid in several species indicates it is more likely benign.
GeneDx RCV001533531 SCV000236028 benign not provided 2018-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000227597 SCV000291172 benign Hypertrophic cardiomyopathy 1 2024-01-31 criteria provided, single submitter clinical testing

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