ClinVar Miner

Submissions for variant NM_001270974.2(HYDIN):c.11695G>A (p.Val3899Met)

gnomAD frequency: 0.00001  dbSNP: rs1626593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823540 SCV002073052 uncertain significance Primary ciliary dyskinesia 5 criteria provided, single submitter clinical testing The missense c.11695G>A (p.Val3899Met) variant in the HYDIN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0008%) in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. The amino acid Valine at position 3899 is changed to a Methionine changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Val3899Met in HYDIN is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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