ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2471G>A (p.Ser824Asn)

gnomAD frequency: 0.00001  dbSNP: rs1351809049
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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 RCV002727854 SCV003548557 uncertain significance Inborn genetic diseases 2020-11-05 criteria provided, single submitter clinical testing The c.2471G>A (p.S824N) alteration is located in exon 15 (coding exon 15) of the TUBGCP6 gene. This alteration results from a G to A substitution at nucleotide position 2471, causing the serine (S) at amino acid position 824 to be replaced by an asparagine (N). Based on data from the Genome Aggregation Database (gnomAD) database, the TUBGCP6 c.2471G>A alteration was observed in 0.0008% (2/251282) of total alleles studied. This amino acid position is poorly conserved in available vertebrate species. The p.S824N 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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