ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)

dbSNP: rs1553654107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674889 SCV000800298 uncertain significance Biotinidase deficiency 2018-06-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844220 SCV002103644 uncertain significance not specified 2022-02-04 criteria provided, single submitter clinical testing Variant summary: BTD c.1249C>G (p.Leu417Val) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251422 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1249C>G has been reported in the literature in an abnormal newborn screen with reduced BTD activity (Procter_2016). This report does not provide unequivocal conclusions about association of the variant with Biotinidase Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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