ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.482del (p.Asn161fs) (rs762559980)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667513 SCV000791980 likely pathogenic Lysosomal acid lipase deficiency 2017-06-02 criteria provided, single submitter clinical testing
Invitae RCV000667513 SCV001376981 pathogenic Lysosomal acid lipase deficiency 2019-08-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn161Ilefs*19) in the LIPA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs762559980, ExAC 0.004%). This variant has been observed in individual(s) with Wolman disease (PMID: 21963785). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 552285). Loss-of-function variants in LIPA are known to be pathogenic (PMID: 23485521). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000029177 SCV000051822 pathogenic Wolman disease 2011-12-01 no assertion criteria provided literature only

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