ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3656G>A (p.Arg1219Gln)

dbSNP: rs888026080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822334 SCV002064782 uncertain significance not specified 2020-09-04 criteria provided, single submitter clinical testing DNA sequence analysis of the CHD7 gene demonstrated a sequence change, c.3656G>A, in exon 15 that results in an amino acid change, p.Arg1219Gln. This sequence change does not appear to have been previously described in patients with CHD7-related disorders. This sequence change is absent in gnomAD population database. The p.Arg1219Gln change affects a highly conserved amino acid residue located in a domain of the CHD7 protein that is known to be functional. The p.Arg1219Gln substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Arg1219Gln change remains unknown at this time.
GeneDx RCV004762191 SCV005368965 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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