ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1056C>T (p.Asp352=)

gnomAD frequency: 0.00001  dbSNP: rs1564748504
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735186 SCV000863389 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001493164 SCV001697786 likely benign Wolman disease 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397520 SCV002713544 likely benign Cardiovascular phenotype 2021-05-27 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.
PreventionGenetics, part of Exact Sciences RCV004535886 SCV004715409 likely benign LIPA-related disorder 2021-11-10 criteria provided, single submitter 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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