ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.203A>G (p.His68Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003074099 SCV003449811 likely benign Wolman disease 2025-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004736252 SCV005363102 uncertain significance LIPA-related disorder 2024-07-08 no assertion criteria provided clinical testing The LIPA c.203A>G variant is predicted to result in the amino acid substitution p.His68Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.062% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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