ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.62C>T (p.Pro21Leu)

gnomAD frequency: 0.00003  dbSNP: rs562971411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498509 SCV000590260 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYLK2 gene. The P21L variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P21L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved across species and in silico analysis suggests that this variant likely does not alter the protein structure/function.
Ambry Genetics RCV004023337 SCV005029431 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing The p.P21L variant (also known as c.62C>T), located in coding exon 2 of the MYLK2 gene, results from a C to T substitution at nucleotide position 62. The proline at codon 21 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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