ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1077G>A (p.Gln359=)

gnomAD frequency: 0.00002  dbSNP: rs538507117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730340 SCV000858069 uncertain significance not provided 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV001478361 SCV001682631 likely benign Wolman disease 2023-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422627 SCV002727628 likely benign Cardiovascular phenotype 2019-09-13 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.

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