ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.947C>T (p.Thr316Ile)

dbSNP: rs2139977562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001725851 SCV001961025 uncertain significance L-2-hydroxyglutaric aciduria 2021-02-03 criteria provided, single submitter clinical testing Based on allele frequency, in-silico prediction scores and a certain overlap with the clinical phenotype, we interpreted this variant at least as of uncertain significance. The lack of one or more of the following features has discouraged further investigations: lack of a possible second hit in autosomal recessive conditions, presence of healthy controls in databases for autosomal dominant conditions, presence of unmatching cardinal clinical features in the patient or in the known gene-disease association, and/or variant type outside the known gene mutational spectrum.

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