ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.558G>A (p.Pro186=)

gnomAD frequency: 0.00003  dbSNP: rs1464825418
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735141 SCV000863342 uncertain significance not provided 2018-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001482878 SCV001687257 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165999 SCV003882368 likely benign Inborn genetic diseases 2023-01-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001830646 SCV002091685 likely benign Niemann-Pick disease, type A 2018-11-04 no assertion criteria provided clinical testing

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