ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) (rs776472526)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671138 SCV000796088 likely pathogenic Lysosomal acid lipase deficiency 2017-12-01 criteria provided, single submitter clinical testing
Invitae RCV001376593 SCV001410727 pathogenic Wolman disease 2020-06-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 342 of the LIPA protein (p.Gly342Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs776472526, ExAC 0.006%). This variant has been observed in several individuals affected with LIPA-related conditions (PMID: 10562460, 28881270, 24048164, 23485521). ClinVar contains an entry for this variant (Variation ID: 555337). This variant has been reported to affect LIPA protein function (PMID: 10562460). This variant disrupts the p.Gly342 amino acid residue in LIPA. Other variant(s) that disrupt this residue have been observed in individuals with LIPA-related conditions (PMID: 9925650), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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