ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.103C>G (p.Leu35Val)

gnomAD frequency: 0.00013  dbSNP: rs201367689
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173158 SCV000224250 uncertain significance not provided 2017-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001242007 SCV001415067 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2025-01-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000173158 SCV003822010 uncertain significance not provided 2019-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258676 SCV003945069 uncertain significance Inborn genetic diseases 2023-03-21 criteria provided, single submitter clinical testing The c.103C>G (p.L35V) alteration is located in exon 1 (coding exon 1) of the SMPD1 gene. This alteration results from a C to G substitution at nucleotide position 103, causing the leucine (L) at amino acid position 35 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004742305 SCV005354025 uncertain significance SMPD1-related disorder 2024-04-11 no assertion criteria provided clinical testing The SMPD1 c.103C>G variant is predicted to result in the amino acid substitution p.Leu35Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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