ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2518G>A (p.Ala840Thr)

gnomAD frequency: 0.00018  dbSNP: rs199578594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543329 SCV000659663 likely benign Dilated Cardiomyopathy, Recessive 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024430 SCV004050859 uncertain significance not specified 2023-06-22 criteria provided, single submitter clinical testing The c.2518G>A (p.A840T) alteration is located in exon 17 (coding exon 17) of the PLEKHM2 gene. This alteration results from a G to A substitution at nucleotide position 2518, causing the alanine (A) at amino acid position 840 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003905481 SCV004721791 likely benign PLEKHM2-related disorder 2023-05-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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