ClinVar Miner

Submissions for variant NM_021939.4(FKBP10):c.44C>G (p.Pro15Arg)

gnomAD frequency: 0.00004  dbSNP: rs572425083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202739 SCV000258181 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000923617 SCV001069102 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020499 SCV004870464 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.44C>G (p.P15R) alteration is located in exon 1 (coding exon 1) of the FKBP10 gene. This alteration results from a C to G substitution at nucleotide position 44, causing the proline (P) at amino acid position 15 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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