ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.4788+6T>A

dbSNP: rs1401481408
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839205 SCV002099153 uncertain significance Snijders Blok-Campeau syndrome 2021-03-02 criteria provided, single submitter clinical testing The c.4965+6T>A splice region variant in intron 31 of 39 of CHD3 has not been reported in affected individuals in the available literature. This variant is absent in gnomAD v3 and seen at a very low requency in gnomaAD v2 (1/251218 heterozygote, allele frequency = 0.000003981) indicating it is not a common benign variant in the populations represented in these databases. In silico predictors suggest this variant might affect splicing (TraP score: 0.909; Splice AI score: Donor Gain 0.74). Given the lack of inheritance data and functional studies supporting its pathogenicity, the c.4965+6T>A variant identified in the CHD3 gene is reported as a Variant of Uncertain Significance.

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