ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.1159G>A (p.Glu387Lys)

dbSNP: rs2134950483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001375003 SCV001572291 likely pathogenic Neurodevelopmental disorder 2020-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322362 SCV002626268 uncertain significance Inborn genetic diseases 2025-01-31 criteria provided, single submitter clinical testing The c.1159G>A (p.E387K) alteration is located in exon 9 (coding exon 9) of the CTSF gene. This alteration results from a G to A substitution at nucleotide position 1159, causing the glutamic acid (E) at amino acid position 387 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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