ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2828T>A (p.Leu943Gln)

gnomAD frequency: 0.00001  dbSNP: rs375079629
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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 RCV001903194 SCV002164852 uncertain significance Acrocallosal syndrome 2022-10-03 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KIF7 protein function. ClinVar contains an entry for this variant (Variation ID: 1396826). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. This variant is present in population databases (rs375079629, gnomAD 0.007%). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 943 of the KIF7 protein (p.Leu943Gln).
Ambry Genetics RCV004041605 SCV004892832 uncertain significance Inborn genetic diseases 2023-10-14 criteria provided, single submitter clinical testing The c.2828T>A (p.L943Q) alteration is located in exon 14 (coding exon 13) of the KIF7 gene. This alteration results from a T to A substitution at nucleotide position 2828, causing the leucine (L) at amino acid position 943 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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