ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.784_785del (p.Asn262fs)

dbSNP: rs2132277720
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775268 SCV002012006 pathogenic Macrocephaly-autism syndrome 2021-10-02 criteria provided, single submitter clinical testing Frameshift: 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 (PVS1_VS). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant has been reported as pathogenic (PMID: 9259288). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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