ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7164+1G>A

dbSNP: rs2129644267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808259 SCV002058897 likely pathogenic CHARGE syndrome 2022-01-03 criteria provided, single submitter clinical testing Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS).It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
GeneDx RCV002463038 SCV002756917 likely pathogenic not provided 2022-05-19 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26921530, 22461308)
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001808259 SCV003920978 pathogenic CHARGE syndrome 2023-03-23 criteria provided, single submitter clinical testing

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