ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) (rs119103232)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000001976 SCV000845357 uncertain significance Biotinidase deficiency 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000001976 SCV000934145 pathogenic Biotinidase deficiency 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 34 of the BTD protein (p.Gly34Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs119103232, ExAC 0.01%). This variant has been observed to be homozygous or in combination with another BTD variant in several individuals affected with biotinidase deficiency (PMID: 9158148, 27657684, 21752405, 25174816, 28498829, 15060693). ClinVar contains an entry for this variant (Variation ID: 1899). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 9158148). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001976 SCV000022134 pathogenic Biotinidase deficiency 1997-05-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000001976 SCV000042555 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only Originally also suspected of being a splice site variant.

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