ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-38G>A

gnomAD frequency: 0.00004  dbSNP: rs138473616
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217923 SCV001389783 uncertain significance Biotinidase deficiency 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 8 of the BTD protein (p.Gly8Asp). This variant is present in population databases (rs138473616, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BTD-related conditions. ClinVar contains an entry for this variant (Variation ID: 946958). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.
Natera, Inc. RCV001217923 SCV002081541 uncertain significance Biotinidase deficiency 2020-03-12 no assertion criteria provided clinical testing

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