ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001543680 SCV001762370 likely pathogenic Gray platelet syndrome 2021-07-02 criteria provided, single submitter clinical testing NBEAL2 c.7284delC is is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. This frameshift variant results in a premature stop codon in exon 47 of 54 likely leading to nonsense-mediated decay and lack of protein production. We consider NBEAL2 c.7284delC to be likely pathogenic.

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