ClinVar Miner

Submissions for variant NM_001163315.3(FBXL17):c.2063A>G (p.Tyr688Cys)

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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 RCV004621151 SCV005115385 uncertain significance not specified 2024-04-15 criteria provided, single submitter clinical testing The c.2063A>G (p.Y688C) alteration is located in exon 9 (coding exon 9) of the FBXL17 gene. This alteration results from a A to G substitution at nucleotide position 2063, causing the tyrosine (Y) at amino acid position 688 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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