ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.682C>T (p.Arg228Cys)

gnomAD frequency: 0.00005  dbSNP: rs141189136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687046 SCV000814597 likely benign Spastic ataxia 2 2024-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258918 SCV003948639 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.682C>T (p.R228C) alteration is located in exon 8 (coding exon 6) of the KIF1C gene. This alteration results from a C to T substitution at nucleotide position 682, causing the arginine (R) at amino acid position 228 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252794 SCV001163937 uncertain significance Microcephaly no assertion criteria provided research

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