ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)

gnomAD frequency: 0.00001  dbSNP: rs541012569
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532215 SCV000630336 uncertain significance Biotinidase deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 181 of the BTD protein (p.Ser181Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs541012569, 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 glycine 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.
Ambry Genetics RCV002527691 SCV003720415 uncertain significance Inborn genetic diseases 2021-09-30 criteria provided, single submitter clinical testing The c.541A>G (p.S181G) alteration is located in exon 4 (coding exon 4) of the BTD gene. This alteration results from a A to G substitution at nucleotide position 541, causing the serine (S) at amino acid position 181 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000532215 SCV001454449 uncertain significance Biotinidase deficiency 2020-01-24 no assertion criteria provided clinical testing

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