ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4110C>G (p.Ile1370Met)

gnomAD frequency: 0.00001  dbSNP: rs199971683
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523581 SCV000619954 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing The I1370M variant has not been published as pathogenic or been reported as benign to our knowledge. The I1370M variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved in mammals; however, M1370 is wild-type in one non-mammalian species. Additionally, the I1370M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Lastly, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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