ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.185C>T (p.Thr62Met)

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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 RCV002933466 SCV003268461 uncertain significance Spastic ataxia 2 2022-05-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with KIF1C-related conditions. This variant is present in population databases (rs762688180, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 62 of the KIF1C protein (p.Thr62Met).
Ambry Genetics RCV003382972 SCV004088875 uncertain significance Inborn genetic diseases 2023-08-14 criteria provided, single submitter clinical testing The c.185C>T (p.T62M) alteration is located in exon 5 (coding exon 3) of the KIF1C gene. This alteration results from a C to T substitution at nucleotide position 185, causing the threonine (T) at amino acid position 62 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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