ClinVar Miner

Submissions for variant NM_015908.6(SRRT):c.847C>T (p.Pro283Ser)

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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 RCV004857489 SCV005503800 uncertain significance not specified 2024-11-10 criteria provided, single submitter clinical testing The c.847C>T (p.P283S) alteration is located in exon 7 (coding exon 6) of the SRRT gene. This alteration results from a C to T substitution at nucleotide position 847, causing the proline (P) at amino acid position 283 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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