ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2281T>C (p.Tyr761His)

gnomAD frequency: 0.00002  dbSNP: rs1085307540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489909 SCV000576688 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003168991 SCV003879229 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.2281T>C (p.Y761H) alteration is located in exon 15 (coding exon 15) of the CNTNAP2 gene. This alteration results from a T to C substitution at nucleotide position 2281, causing the tyrosine (Y) at amino acid position 761 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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