ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.2721GGA[8] (p.Glu915_Glu917del)

dbSNP: rs10594016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837128 SCV002097527 uncertain significance not provided 2024-06-07 criteria provided, single submitter clinical testing In-frame deletion of 3 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge; Located in an alternate transcript of the gene
Ambry Genetics RCV002440898 SCV002747872 likely benign Inborn genetic diseases 2021-08-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004542136 SCV004778096 uncertain significance KIF1A-related disorder 2023-12-21 no assertion criteria provided clinical testing The KIF1A c.2745_2753del9 variant is predicted to result in an in-frame deletion (p.Glu915_Glu917del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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