ClinVar Miner

Submissions for variant NM_024063.3(AFG2B):c.1826C>G (p.Ser609Ter)

gnomAD frequency: 0.00001  dbSNP: rs778481503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442899 SCV001906475 pathogenic not provided 2021-07-29 criteria provided, single submitter clinical testing Identified with another SPATA5L1 variant in a patient with sensorineural hearing loss and a neurodevelopmental disorder referred for genetic testing at GeneDx Nonsense 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 at significant frequency in large population cohorts (Lek et al., 2016)
OMIM RCV001779315 SCV002016205 pathogenic Neurodevelopmental disorder with hearing loss and spasticity 2023-04-19 no assertion criteria provided literature only

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