ClinVar Miner

Submissions for variant NM_005198.5(CHKB):c.260T>C (p.Leu87Pro)

dbSNP: rs1177999891
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002712501 SCV003554272 uncertain significance Inborn genetic diseases 2021-03-02 criteria provided, single submitter clinical testing The c.260T>C (p.L87P) alteration is located in exon 2 (coding exon 2) of the CHKB gene. This alteration results from a T to C substitution at nucleotide position 260, causing the leucine (L) at amino acid position 87 to be replaced by a proline (P). The in silico prediction for the p.L87P alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Next Generation Genetic Polyclinic RCV003126275 SCV003801421 uncertain significance Megaconial type congenital muscular dystrophy 2023-02-13 no assertion criteria provided clinical testing

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