ClinVar Miner

Submissions for variant NM_031454.2(SELENOO):c.1667C>G (p.Ala556Gly)

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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 RCV004861715 SCV005495069 uncertain significance not specified 2024-10-07 criteria provided, single submitter clinical testing The c.1667C>G (p.A556G) alteration is located in exon 7 (coding exon 7) of the SELO gene. This alteration results from a C to G substitution at nucleotide position 1667, causing the alanine (A) at amino acid position 556 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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