ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn) (rs1446626293)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Alexion Pharmaceuticals, Inc RCV000857253 SCV000999842 likely pathogenic Lysosomal acid lipase deficiency 2019-06-01 criteria provided, single submitter research
Invitae RCV001382524 SCV001581347 pathogenic Wolman disease 2020-10-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 345 of the LIPA protein (p.Asp345Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with lysosomal acid lipase (LAL) deficiency (PMID: 28881270, 30684275). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 695039). 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: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.

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