ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)

gnomAD frequency: 0.00021  dbSNP: rs139040517
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331831 SCV001523959 uncertain significance Intellectual disability, autosomal recessive 58 2020-01-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV003992493 SCV004810943 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing ELP2: PM2, PM3:Supporting
Breakthrough Genomics, Breakthrough Genomics RCV003992493 SCV005193303 uncertain significance not provided criteria provided, single submitter not provided
Wainwright Lab, University Of Queensland RCV001310084 SCV001482303 likely pathogenic Intellectual disability, profound no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004531093 SCV004751277 likely benign ELP2-related disorder 2019-06-05 no assertion criteria provided 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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