ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2649G>T (p.Glu883Asp)

dbSNP: rs765751072
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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 RCV003514499 SCV004281316 likely benign Acrocallosal syndrome 2023-11-12 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358409 SCV001554133 uncertain significance not provided no assertion criteria provided clinical testing The KIF7 p.Glu883Asp variant was not identified in the literature nor was it identified in ClinVar or LOVD 3.0. The variant was identified in dbSNP (ID: rs765751072) and in control databases in 32 of 226518 chromosomes at a frequency of 0.0001413 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the South Asian population in 32 of 28274 chromosomes (freq: 0.001132), but was not observed in the African, Latino, Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), or Other populations. The p.Glu883 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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