ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.766G>A (p.Asp256Asn)

gnomAD frequency: 0.00004  dbSNP: rs150280414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864750 SCV002121372 likely benign Spastic ataxia 2 2024-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545883 SCV003548550 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.766G>A (p.D256N) alteration is located in exon 9 (coding exon 7) of the KIF1C gene. This alteration results from a G to A substitution at nucleotide position 766, causing the aspartic acid (D) at amino acid position 256 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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