ClinVar Miner

Submissions for variant NM_031454.2(SELENOO):c.319G>A (p.Gly107Ser)

gnomAD frequency: 0.00119  dbSNP: rs184575812
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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 RCV004450415 SCV004945907 uncertain significance not specified 2021-08-23 criteria provided, single submitter clinical testing The c.319G>A (p.G107S) alteration is located in exon 1 (coding exon 1) of the SELO gene. This alteration results from a G to A substitution at nucleotide position 319, causing the glycine (G) at amino acid position 107 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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