ClinVar Miner

Submissions for variant NC_000020.10:g.(?_35532550)_(35563602_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024954 SCV002312792 likely pathogenic Aicardi-Goutieres syndrome 5 2021-01-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SAMHD1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-13 of the SAMHD1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant disrupts the p.Ile201Asn amino acid residue in SAMHD1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19525956, 20653736, 22461318, 28229507). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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