ClinVar Miner

Submissions for variant NM_000085.5(CLCNKB):c.1717T>C (p.Ser573Pro)

gnomAD frequency: 0.00014  dbSNP: rs148173992
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551956 SCV001772564 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Labcorp Genetics (formerly Invitae), Labcorp RCV001551956 SCV002365975 likely benign not provided 2024-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568335 SCV003730178 uncertain significance Inborn genetic diseases 2024-06-30 criteria provided, single submitter clinical testing The c.1717T>C (p.S573P) alteration is located in exon 16 (coding exon 15) of the CLCNKB gene. This alteration results from a T to C substitution at nucleotide position 1717, causing the serine (S) at amino acid position 573 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040317 SCV005683438 uncertain significance Bartter disease type 3; Bartter disease type 4B 2024-02-09 criteria provided, single submitter clinical testing

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