ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2930G>A (p.Arg977Gln)

gnomAD frequency: 0.00001  dbSNP: rs769540024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000291777 SCV000332937 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001342207 SCV001536123 uncertain significance Acrocallosal syndrome 2022-06-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 977 of the KIF7 protein (p.Arg977Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with KIF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 281897). 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 disruptive. 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.
Genetic Services Laboratory, University of Chicago RCV003151007 SCV003839650 uncertain significance not specified 2022-11-23 no assertion criteria provided clinical testing DNA sequence analysis of the KIF7 gene demonstrated a sequence change, c.2930G>A, in exon 15 that results in an amino acid change, p.Arg977Gln. This sequence change has been described in the gnomAD database in one individual corresponding to a population frequency of 0.0006% (dbSNP rs769540024). The p.Arg977Gln change affects a highly conserved amino acid residue located in a domain of the KIF7 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg977Gln substitution. This sequence change does not appear to have been previously described in individuals with KIF7-related disorders.

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