ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2104-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004785187 SCV005397795 likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2024-05-24 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>A) 1 base upstream of the acceptor splice site of exon 16 of 23 in the SETD5 gene. This variant is absent from ClinVar and has not been observed in individuals affected by a SETD5-related disorder in the published literature, to our knowledge. This variant is absent from the gnomAD v4.1.0 population database (0/~1613000 alleles). In silico splice tools predict that this G to A base change will disrupt splicing, and the nucleotide at this position is highly conserved across the vertebrate species examined. Studies examining the functional consequence of this variant have not been published, to our knowledge. Based upon the evidence, we consider this variant to be likely pathogenic. ACMG Criteria: PM2, PVS1

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