ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)

gnomAD frequency: 0.00002  dbSNP: rs769903360
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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 RCV000822202 SCV000962993 uncertain significance Biotinidase deficiency 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 368 of the BTD protein (p.Asp368Asn). This variant is present in population databases (rs769903360, gnomAD 0.005%). 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: 664167). 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"). 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.
GeneDx RCV001759616 SCV001997550 uncertain significance not provided 2020-01-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Natera, Inc. RCV000822202 SCV002081569 uncertain significance Biotinidase deficiency 2020-04-20 no assertion criteria provided clinical testing

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