ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.49G>A (p.Val17Met)

gnomAD frequency: 0.00004  dbSNP: rs772369148
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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 RCV001950099 SCV002201131 uncertain significance Biotinidase deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 37 of the BTD protein (p.Val37Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs772369148, ExAC 0.06%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV001950099 SCV002777370 uncertain significance Biotinidase deficiency 2021-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561398 SCV003753474 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.109G>A (p.V37M) alteration is located in exon 2 (coding exon 2) of the BTD gene. This alteration results from a G to A substitution at nucleotide position 109, causing the valine (V) at amino acid position 37 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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