ClinVar Miner

Submissions for variant NM_001256447.2(BCAP31):c.247C>T (p.Gln83Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV004698417 SCV005199871 likely pathogenic Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 2023-10-24 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v3.1.2 dataset. Stop-gained (nonsense) - predicted to 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. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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