ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)

gnomAD frequency: 0.00004  dbSNP: rs775780402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229267 SCV001401708 likely benign Luscan-Lumish syndrome 2023-11-27 criteria provided, single submitter clinical testing
New York Genome Center RCV001229267 SCV002025662 uncertain significance Luscan-Lumish syndrome 2020-04-25 criteria provided, single submitter clinical testing The p.Ser2452Leu variant identified in SETD2 has not been reported in affected individuals in the literature. The variant has 0.0000278 allele frequency in gnomAD database (7 out of 251,388 heterozygous alleles) indicating it is a rare allele in general population. The variant affects an evolutionarily conserved residue and is predicted deleterious by multiple in silico prediction tools. Based on the current evidence, the p.Ser2452Leu variant in the SETD2 gene is assessed as a variant of uncertain significance.
Genome-Nilou Lab RCV001229267 SCV002555331 uncertain significance Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563159 SCV003597454 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing Unlikely to be causative of Luscan-Lumish syndrome (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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