ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3733G>A (p.Val1245Met)

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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 RCV004969622 SCV005527347 uncertain significance Inborn genetic diseases 2024-12-07 criteria provided, single submitter clinical testing The c.3733G>A (p.V1245M) alteration is located in exon 16 (coding exon 16) of the TUBGCP6 gene. This alteration results from a G to A substitution at nucleotide position 3733, causing the valine (V) at amino acid position 1245 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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