ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)

gnomAD frequency: 0.00012  dbSNP: rs148709879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125357 SCV000168808 benign not specified 2014-04-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000537158 SCV000631922 benign Holocarboxylase synthetase deficiency 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000537158 SCV001296827 uncertain significance Holocarboxylase synthetase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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