ClinVar Miner

Submissions for variant NM_000266.4(NDP):c.155T>A (p.Leu52Ter)

dbSNP: rs886043097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000657797 SCV000338420 pathogenic not provided 2015-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000657797 SCV000779550 likely pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing The L52X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L52X variant is not observed in large population cohorts (Lek et al., 2016). The L52X nonsense variant in the NDP gene is predicted to cause loss of normal protein function through protein truncation. Specifically, the last 82 amino acids are predicted to be lost. Therefore, this variant is likely pathogenic
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244734 SCV002512779 likely pathogenic Atrophia bulborum hereditaria 2021-05-18 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderate

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