ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) (rs397514402)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000022007 SCV000630325 pathogenic Biotinidase deficiency 2017-03-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 445 of the BTD protein (p.Gly445Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals affected with both profound and partial biotinidase deficiency (PMID: 9396567, 15776412). A different missense substitution at this codon (p.Gly445Arg) has been determined to be pathogenic (PMID: 20224900). This suggests that the glycine residue is critical for BTD protein function and that other missense substitutions at this position may also be pathogenic. For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022007 SCV000042678 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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