ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.307C>T (p.Pro103Ser)

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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 RCV004683014 SCV005181238 uncertain significance Inborn genetic diseases 2024-05-06 criteria provided, single submitter clinical testing The c.307C>T (p.P103S) alteration is located in exon 1 (coding exon 1) of the TUBGCP6 gene. This alteration results from a C to T substitution at nucleotide position 307, causing the proline (P) at amino acid position 103 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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