ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)

gnomAD frequency: 0.00001  dbSNP: rs782470471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409405 SCV001611423 likely benign 3-Methylglutaconic aciduria type 2 2024-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681165 SCV005167807 uncertain significance Cardiovascular phenotype 2024-03-26 criteria provided, single submitter clinical testing The c.198G>A variant (also known as p.V66V), located in coding exon 2 of the TAZ gene, results from a G to A substitution at nucleotide position 198. This nucleotide substitution does not change the valine at codon 66. Based on data from gnomAD, the A allele has an overall frequency of <0.01% (1/158211) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was <0.01% (1/12584) of East Asian alleles. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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