ClinVar Miner

Submissions for variant NM_031454.2(SELENOO):c.1952C>T (p.Ser651Phe)

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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 RCV004663729 SCV005160932 uncertain significance not specified 2024-04-08 criteria provided, single submitter clinical testing The c.1952C>T (p.S651F) alteration is located in exon 9 (coding exon 9) of the SELO gene. This alteration results from a C to T substitution at nucleotide position 1952, causing the serine (S) at amino acid position 651 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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