ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.366G>C (p.Lys122Asn)

dbSNP: rs1315618796
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234708 SCV001407366 uncertain significance Dilated Cardiomyopathy, Recessive 2020-07-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 122 of the PLEKHM2 protein (p.Lys122Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PLEKHM2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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