ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1802A>C (p.His601Pro) (rs45477891)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242113 SCV000319610 uncertain significance Cardiovascular phenotype 2015-05-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Invitae RCV000648711 SCV000770532 uncertain significance Aortic aneurysm, familial thoracic 7 2017-11-17 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 601 of the MYLK protein (p.His601Pro). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and proline. This variant is present in population databases (rs45477891, ExAC 0.2%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with MYLK-related disease. ClinVar contains an entry for this variant (Variation ID: 264001). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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