ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.1228G>A (p.Val410Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM 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.
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.

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