Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001335682 | SCV001528903 | uncertain significance | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 2018-05-27 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002546744 | SCV003721514 | uncertain significance | Inborn genetic diseases | 2022-02-24 | criteria provided, single submitter | clinical testing | The c.1813G>T (p.A605S) alteration is located in exon 9 (coding exon 8) of the KIF14 gene. This alteration results from a G to T substitution at nucleotide position 1813, causing the alanine (A) at amino acid position 605 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003399120 | SCV004105474 | uncertain significance | KIF14-related disorder | 2023-01-10 | criteria provided, single submitter | clinical testing | The KIF14 c.1813G>T variant is predicted to result in the amino acid substitution p.Ala605Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-200573017-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Baylor Genetics | RCV004563006 | SCV005049809 | uncertain significance | Microcephaly 20, primary, autosomal recessive | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Victorian Clinical Genetics Services, |
RCV004563006 | SCV005087248 | uncertain significance | Microcephaly 20, primary, autosomal recessive | 2023-12-21 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3A. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with autosomal recessive primary microcephaly 20 (MIM#617914). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from alanine to serine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (v3: 10 heterozygotes, 0 homozygotes). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated kinesin motor domain (DECIPHER). (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0809 - Previous evidence of pathogenicity for this variant is inconclusive. This variant has been reported as a VUS by clinical testing laboratories (ClinVar). (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |