ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3980C>A (p.Pro1327Gln)

dbSNP: rs377380096
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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 RCV003273299 SCV003985899 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.3980C>A (p.P1327Q) alteration is located in exon 16 (coding exon 16) of the TUBGCP6 gene. This alteration results from a C to A substitution at nucleotide position 3980, causing the proline (P) at amino acid position 1327 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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