ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs)

dbSNP: rs886039528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255893 SCV000322268 pathogenic not provided 2020-01-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31146700, 22461308, 33502061)
Invitae RCV001234008 SCV001406633 pathogenic CHARGE association 2021-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr2056Profs*3) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CHARGE syndrome and/or multiple congenital anomalies (PMID: 22461308, 33502061). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 265405). For these reasons, this variant has been classified as Pathogenic.

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