ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)

gnomAD frequency: 0.00001  dbSNP: rs886058115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000262752 SCV000441829 uncertain significance Biotinidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000437667 SCV000536565 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing The D368A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D368A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D368A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000262752 SCV000832606 uncertain significance Biotinidase deficiency 2021-09-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 368 of the BTD protein (p.Asp368Ala). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is not present in population databases (ExAC no frequency). 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: 343909). 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.
Natera, Inc. RCV000262752 SCV002081571 uncertain significance Biotinidase deficiency 2020-08-29 no assertion criteria provided clinical testing

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