ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2641T>A (p.Cys881Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136624 SCV003819443 uncertain significance Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2019-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246056 SCV004948627 uncertain significance Inborn genetic diseases 2023-10-10 criteria provided, single submitter clinical testing The c.2641T>A (p.C881S) alteration is located in exon 18 (coding exon 16) of the SETD5 gene. This alteration results from a T to A substitution at nucleotide position 2641, causing the cysteine (C) at amino acid position 881 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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