ClinVar Miner

Submissions for variant NM_014494.4(TNRC6A):c.5779A>G (p.Ser1927Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004475590 SCV004968235 uncertain significance not specified 2023-11-29 criteria provided, single submitter clinical testing The c.5779A>G (p.S1927G) alteration is located in exon 25 (coding exon 25) of the TNRC6A gene. This alteration results from a A to G substitution at nucleotide position 5779, causing the serine (S) at amino acid position 1927 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005015147 SCV005646522 uncertain significance Epilepsy, familial adult myoclonic, 6 2024-06-19 criteria provided, single submitter clinical testing

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