ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1076A>G (p.His359Arg)

dbSNP: rs763540316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819793 SCV000960474 uncertain significance Biotinidase deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 379 of the BTD protein (p.His379Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs763540316, ExAC 0.08%). This variant has not been reported in the literature in individuals affected with BTD-related conditions. 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000819793 SCV002081572 uncertain significance Biotinidase deficiency 2020-11-03 no assertion criteria provided clinical testing

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