ClinVar Miner

Submissions for variant NM_015908.6(SRRT):c.1766C>T (p.Pro589Leu)

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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 RCV004675435 SCV005172697 uncertain significance not specified 2024-05-13 criteria provided, single submitter clinical testing The c.1766C>T (p.P589L) alteration is located in exon 14 (coding exon 13) of the SRRT gene. This alteration results from a C to T substitution at nucleotide position 1766, causing the proline (P) at amino acid position 589 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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