ClinVar Miner

Submissions for variant NR_028038.2(CASTOR3):n.607T>C

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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 RCV004925141 SCV005589630 uncertain significance not specified 2024-12-04 criteria provided, single submitter clinical testing The c.385T>C (p.S129P) alteration is located in exon 3 (coding exon 3) of the GATS gene. This alteration results from a T to C substitution at nucleotide position 385, causing the serine (S) at amino acid position 129 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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