ClinVar Miner

Submissions for variant NM_001353345.2(SETD1B):c.4928G>A (p.Arg1643His)

gnomAD frequency: 0.00005  dbSNP: rs376856381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003279580 SCV003954471 uncertain significance Inborn genetic diseases 2023-03-29 criteria provided, single submitter clinical testing The c.4799G>A (p.R1600H) alteration is located in exon 12 (coding exon 12) of the SETD1B gene. This alteration results from a G to A substitution at nucleotide position 4799, causing the arginine (R) at amino acid position 1600 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005399305 SCV006055576 uncertain significance Intellectual developmental disorder with seizures and language delay 2022-04-07 criteria provided, single submitter research

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