ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) (rs28934602)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001991 SCV000792879 likely pathogenic Holocarboxylase synthetase deficiency 2017-07-19 criteria provided, single submitter clinical testing
Invitae RCV000001991 SCV001236730 pathogenic Holocarboxylase synthetase deficiency 2020-06-09 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 216 of the HLCS protein (p.Leu216Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with holocarboxylase synthetase deficiency (HCS) in a family and has also been observed in several individuals affected with HCS (PMID: 8817339, 24085707). ClinVar contains an entry for this variant (Variation ID: 1914). This variant has been reported to affect HLCS protein function (PMID: 21894551, 22027809). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001991 SCV000022149 pathogenic Holocarboxylase synthetase deficiency 2002-07-22 no assertion criteria provided literature only

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