ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser)

gnomAD frequency: 0.00003  dbSNP: rs761144309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241146 SCV001414141 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 337 of the SMPD1 protein (p.Asn337Ser). This variant is present in population databases (rs761144309, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 966461). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001835093 SCV002092258 uncertain significance Niemann-Pick disease, type A 2019-12-01 no assertion criteria provided clinical testing

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