ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470525 SCV002768666 uncertain significance 3-Methylglutaconic aciduria type 2 2019-08-28 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v0.6.1, this variant is classified as VOUS (3a). Following criteria are met: 0102 - Loss of function is a known mechanism of disease for this gene. 0109 - This gene is known to be associated with X-linked recessive disease. 0200 - Variant is predicted to result in a missense amino acid change from Leu to Gln. 0301 - Variant is absent from gnomAD. 0501 - Missense variant consistently predicted to be damaging by in-silico tools or highly conserved with a major amino acid change. 0600 - Variant is located in an annotated domain or motif that does not have a well established function. 0703 - Comparable variant in relevant codon/region has moderate previous evidence for pathogenicity. 0807 - Variant has not previously been reported in a clinical context. 0905 - No published segregation evidence has been identified for this variant. 1007 - No published functional evidence has been identified for this variant. 1205 - Variant is maternally inherited.

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