ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.323C>A (p.Pro108His)

gnomAD frequency: 0.00001  dbSNP: rs369818702
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175895 SCV000227466 uncertain significance not provided 2015-03-03 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659293 SCV000781097 uncertain significance CHARGE syndrome 2016-11-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825308 SCV000966603 uncertain significance not specified 2018-04-12 criteria provided, single submitter clinical testing The p.Pro108His variant in CHD7 has not been previously reported in individuals with CHARGE syndrome, but has been identified in 3/9848 of Ashkenazi Jewish chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs369818702). Computational prediction tools and conservation analys is do not provide strong support for or against an impact to the protein. In sum mary, the clinical significance of the p.Pro108His variant is uncertain. ACMG/AM P Criteria applied: none.
Labcorp Genetics (formerly Invitae), Labcorp RCV000659293 SCV001557314 benign CHARGE syndrome 2023-11-28 criteria provided, single submitter clinical testing

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