ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.664C>A (p.Leu222Ile)

gnomAD frequency: 0.00035  dbSNP: rs192262279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526824 SCV000655763 benign Luscan-Lumish syndrome 2022-11-10 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224336 SCV003920469 uncertain significance Luscan-Lumish syndrome; Rabin-Pappas syndrome; Intellectual developmental disorder, autosomal dominant 70 2022-10-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.1% (46/41454) (https://gnomad.broadinstitute.org/variant/3-47123972-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:475534). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003945317 SCV004762971 likely benign SETD2-related condition 2019-04-01 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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