ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.1420A>G (p.Met474Val)

dbSNP: rs1014399187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448837 SCV004176610 uncertain significance Hypertrophic cardiomyopathy 1 2023-03-01 criteria provided, single submitter clinical testing The missense c.1420A>G (p.Met474Val) variant in MYLK2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Met474Val variant is novel (not in any individuals) in both gnomAD Exomes and 1000 Genomes databases. This variant has not been reported to the ClinVar database. The amino acid change p.Met474Val in MYLK2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Met at position 474 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).
Ambry Genetics RCV004827966 SCV005451574 uncertain significance not specified 2024-08-12 criteria provided, single submitter clinical testing The c.1420A>G (p.M474V) alteration is located in exon 10 (coding exon 9) of the MYLK2 gene. This alteration results from a A to G substitution at nucleotide position 1420, causing the methionine (M) at amino acid position 474 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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