ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg)

gnomAD frequency: 0.00060  dbSNP: rs202039332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336364 SCV001529727 uncertain significance MEGF8-related Carpenter syndrome 2018-07-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001336364 SCV001610175 likely benign MEGF8-related Carpenter syndrome 2023-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000983921 SCV001988081 uncertain significance not provided 2021-01-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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