ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) (rs201023772)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021987 SCV000800620 uncertain significance Biotinidase deficiency 2017-11-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000405919 SCV000335421 uncertain significance not provided 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV000021987 SCV000813112 uncertain significance Biotinidase deficiency 2018-06-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 402 of the BTD protein (p.Asn402Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs201023772, ExAC 0.03%). This variant has been observed in combination with another BTD variant in individuals affected with biotinidase deficiency including one individual with three BTD variants (PMID: 20224900, 25144890). ClinVar contains an entry for this variant (Variation ID: 25062). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Research and Development, ARUP Laboratories RCV000021987 SCV000042657 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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