ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.451_452del (p.Val152fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002307951 SCV002604415 likely pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-03-02 criteria provided, single submitter clinical testing NM_000543.4(SMPD1):c.451_452delTC(V152Afs*5) is expected to be pathogenic in the context of Niemann-Pick disease, SMPD1-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SMPD1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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