ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.589G>A (p.Val197Ile)

gnomAD frequency: 0.00004  dbSNP: rs191952316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002542953 SCV003447261 uncertain significance Sphingolipid activator protein 1 deficiency 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 197 of the PSAP protein (p.Val197Ile). This variant is present in population databases (rs191952316, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PSAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 991970). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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. RCV001280275 SCV001467440 uncertain significance Metachromatic leukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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