ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.253G>A (p.Gly85Arg)

gnomAD frequency: 0.00006  dbSNP: rs368200803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970742 SCV001118337 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427405 SCV002740576 likely benign Inborn genetic diseases 2022-03-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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. RCV001276410 SCV001462673 uncertain significance Sphingomyelin/cholesterol lipidosis 2017-05-04 no assertion criteria provided clinical testing

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