ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1771A>T (p.Ile591Phe)

dbSNP: rs777024069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002722502 SCV003554639 uncertain significance Inborn genetic diseases 2021-01-29 criteria provided, single submitter clinical testing The c.1771A>T (p.I591F) alteration is located in exon 9 (coding exon 9) of the TUBGCP6 gene. This alteration results from a A to T substitution at nucleotide position 1771, causing the isoleucine (I) at amino acid position 591 to be replaced by a phenylalanine (F). The p.I591F alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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