ClinVar Miner

Submissions for variant NM_000892.5(KLKB1):c.517G>A (p.Gly173Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004792873 SCV005410638 uncertain significance not provided 2024-07-10 criteria provided, single submitter clinical testing PM1_supporting
Ambry Genetics RCV005353366 SCV006024709 uncertain significance not specified 2025-03-10 criteria provided, single submitter clinical testing The c.517G>A (p.G173R) alteration is located in exon 6 (coding exon 5) of the KLKB1 gene. This alteration results from a G to A substitution at nucleotide position 517, causing the glycine (G) at amino acid position 173 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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