ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.538+4T>A

dbSNP: rs779872404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051986 SCV001216171 uncertain significance Wolman disease 2021-08-27 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the LIPA gene. It does not directly change the encoded amino acid sequence of the LIPA protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with LIPA-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
PreventionGenetics, part of Exact Sciences RCV004545030 SCV004783486 likely benign LIPA-related disorder 2020-04-03 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. RCV001832477 SCV002091421 uncertain significance Lysosomal acid lipase deficiency 2021-07-27 no assertion criteria provided clinical testing

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