ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.240+1del

dbSNP: rs777809198
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775227 SCV002011922 pathogenic Lethal multiple pterygium syndrome 2021-10-02 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 nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.00001991, PM2). The variant was observed in trans with a pathogenic variant (NM_005199.4: c.428C>G) as compound heterozygous (3billion dataset, PM3). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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