ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.714G>A (p.Ala238=)

gnomAD frequency: 0.00004  dbSNP: rs139282720
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591044 SCV000706683 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001456835 SCV001660624 likely benign Wolman disease 2024-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278933 SCV004005718 likely benign Cardiovascular phenotype 2023-04-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GENinCode PLC RCV004820062 SCV005441696 likely benign Lysosomal acid lipase deficiency 2023-06-12 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).
PreventionGenetics, part of Exact Sciences RCV004543370 SCV004758625 likely benign LIPA-related disorder 2021-09-16 no assertion criteria provided 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).

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