ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)

gnomAD frequency: 0.00001  dbSNP: rs397514376
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556792 SCV000630338 uncertain significance Biotinidase deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 202 of the BTD protein (p.Asn202Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs397514376, ExAC 0.03%). 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV000556792 SCV002803847 uncertain significance Biotinidase deficiency 2022-05-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000556792 SCV002081556 uncertain significance Biotinidase deficiency 2019-10-28 no assertion criteria provided clinical testing

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