ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.100G>A (p.Val34Ile)

dbSNP: rs2052973227
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250551 SCV001425376 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2020-02-07 criteria provided, single submitter clinical testing This ACD variant (rs142662151) is present in a large population datasets (gnomAD: 95/264426 total alleles; 0.03593%; no homozygotes). A single submitter in ClinVar classifies this variant as uncertain. Two bioinformatic tools queried predict that this substitution would be tolerated, and the aspartic acid residue at this position is not evolutionarily conserved across species assessed. Bioinformatic analysis predicts that this misssense variant would not affect normal exon 2 splicing, although this has not been confirmed experimentally to our knowledge. Due to lack of segregation and functional data, we consider the clinical significance of c.358G>A to be uncertain at this time.

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