ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1081A>G (p.Ser361Gly)

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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 RCV005295395 SCV005956816 uncertain significance Inborn genetic diseases 2025-02-18 criteria provided, single submitter clinical testing The c.1081A>G (p.S361G) alteration is located in exon 3 (coding exon 3) of the TYR gene. This alteration results from a A to G substitution at nucleotide position 1081, causing the serine (S) at amino acid position 361 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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