Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004614584 | SCV005106524 | uncertain significance | Inborn genetic diseases | 2024-03-31 | criteria provided, single submitter | clinical testing | The c.1228G>A (p.V410M) alteration is located in exon 8 (coding exon 8) of the CNTNAP1 gene. This alteration results from a G to A substitution at nucleotide position 1228, causing the valine (V) at amino acid position 410 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Neuberg Centre For Genomic Medicine, |
RCV004577303 | SCV005061262 | uncertain significance | Charcot-Marie-Tooth disease type 4E | criteria provided, single submitter | clinical testing | The observed missense variant c.1228G>A(p.Val410Met) in CNTNAP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is reported with 0.003% allele frequency in gnomAD Exomes. The amino acid Valine at position 410 is changed to a Methionine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT. The amino acid change p.Val410Met in CNTNAP1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. |