ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.6455A>G (p.Tyr2152Cys)

gnomAD frequency: 0.00024  dbSNP: rs139628048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538363 SCV000655761 benign Luscan-Lumish syndrome 2022-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726241 SCV001962488 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SETD2: BS2
Ambry Genetics RCV002525325 SCV003741800 likely benign Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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