ClinVar Miner

Submissions for variant NM_015908.6(SRRT):c.1129G>A (p.Gly377Ser)

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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 RCV004675432 SCV005172693 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing The c.1129G>A (p.G377S) alteration is located in exon 9 (coding exon 8) of the SRRT gene. This alteration results from a G to A substitution at nucleotide position 1129, causing the glycine (G) at amino acid position 377 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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