ClinVar Miner

Submissions for variant NM_030760.5(S1PR5):c.1107G>C (p.Gln369His)

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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 RCV004661316 SCV005158950 uncertain significance not specified 2024-05-26 criteria provided, single submitter clinical testing The c.1107G>C (p.Q369H) alteration is located in exon 2 (coding exon 1) of the S1PR5 gene. This alteration results from a G to C substitution at nucleotide position 1107, causing the glutamine (Q) at amino acid position 369 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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