ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2914G>T (p.Val972Leu)

dbSNP: rs79839906
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322459 SCV001513333 uncertain significance Acrocallosal syndrome 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 972 of the KIF7 protein (p.Val972Leu). This variant is not present in population databases (gnomAD no frequency). 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: 1022535). 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. 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.
Ambry Genetics RCV002545108 SCV003707348 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.2914G>T (p.V972L) alteration is located in exon 15 (coding exon 14) of the KIF7 gene. This alteration results from a G to T substitution at nucleotide position 2914, causing the valine (V) at amino acid position 972 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692497 SCV005193993 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005012770 SCV005642889 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-06-19 criteria provided, single submitter clinical testing

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