ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.524A>C (p.Gln175Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV003225684 SCV003921959 likely pathogenic Lysosomal acid lipase deficiency 2020-07-22 criteria provided, single submitter clinical testing 0102 - Loss of function is a known mechanism of disease in this gene and is associated with LAL-D. (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from glutamine to proline. (I) 0252 - This variant is homozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0502 - Missense variant with conflicting <i>in silico</i> predictions, but very high conservation. (I) 0601 - Variant is located in the well-established functional abhydrolase 1 domain, adjacent to the active site (p.Ser174) (PDB, UniProt, PMID: 31180157). (SP) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0807 - This variant has no previous evidence of pathogenicity. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1101 - Very strong and specific phenotype match for this individual. (SP) 1206 - This variant has been shown to be paternally inherited (by trio analysis). Further inspection of the data suggests paternal isodisomy of chromosome 10. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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