ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.409C>G (p.Leu137Val)

dbSNP: rs377027316
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484673 SCV000565434 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing The L137V variant in the PSAP gene has been reported previously as a heterozygous variant in an individual with an atypical preoxisomal disorder; however no second PSAP variant was identified and this individual carried a homozygous PEX16 pathogenic variant (Bacino et al., 2016). The L137V variant was observed on 115/11540 (0.99%) alleles from individuals of Latino background in the Exome Aggregation Consortium (ExAC) data set, indicating it may be a rare variant in this population. The L137V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L137V as a variant of uncertain significance.
Invitae RCV001084808 SCV000631416 benign Sphingolipid activator protein 1 deficiency 2024-01-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335064 SCV001528104 uncertain significance Combined PSAP deficiency 2018-01-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003902722 SCV004722085 likely benign PSAP-related disorder 2020-05-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001272680 SCV001454919 uncertain significance Metachromatic leukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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