ClinVar Miner

Submissions for variant NM_004230.4(S1PR2):c.80C>T (p.Thr27Met)

gnomAD frequency: 0.00003  dbSNP: rs376767531
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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 RCV003242087 SCV003966313 uncertain significance Inborn genetic diseases 2023-03-23 criteria provided, single submitter clinical testing The c.80C>T (p.T27M) alteration is located in exon 2 (coding exon 1) of the S1PR2 gene. This alteration results from a C to T substitution at nucleotide position 80, causing the threonine (T) at amino acid position 27 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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