ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.239C>T (p.Ala80Val)

dbSNP: rs1553652171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673777 SCV000799020 uncertain significance Biotinidase deficiency 2018-04-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117479 SCV003800887 uncertain significance not specified 2024-04-12 criteria provided, single submitter clinical testing Variant summary: BTD c.239C>T (p.Ala80Val) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251238 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.239C>T has been reported in the literature in at-least one individual affected with Biotinidase Deficiency (example, Procter_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 36684547, 26810761). ClinVar contains an entry for this variant (Variation ID: 557611). Based on the evidence outlined above, the variant was classified as uncertain significance.

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