ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.929G>A (p.Trp310Ter)

dbSNP: rs2133413584
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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 RCV001942247 SCV002232052 pathogenic Wolman disease 2023-03-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the LIPA protein in which other variant(s) (p.Leu356*) have been determined to be pathogenic (PMID: 25852113). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1455198). This variant has not been reported in the literature in individuals affected with LIPA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp310*) in the LIPA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acid(s) of the LIPA protein.
Baylor Genetics RCV003147713 SCV003835329 pathogenic Lysosomal acid lipase deficiency 2022-07-19 criteria provided, single submitter clinical testing

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