ClinVar Miner

Submissions for variant NM_004522.3(KIF5C):c.10C>T (p.Pro4Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005366269 SCV006019991 uncertain significance Inborn genetic diseases 2025-02-20 criteria provided, single submitter clinical testing The c.10C>T (p.P4S) alteration is located in exon 1 (coding exon 1) of the KIF5C gene. This alteration results from a C to T substitution at nucleotide position 10, causing the proline (P) at amino acid position 4 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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