ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.1841G>C (p.Arg614Pro)

dbSNP: rs144928920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002078421 SCV002375122 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003007025 SCV003591100 uncertain significance Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing The c.1841G>C (p.R614P) alteration is located in exon 13 (coding exon 13) of the ADAMTS17 gene. This alteration results from a G to C substitution at nucleotide position 1841, causing the arginine (R) at amino acid position 614 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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