ClinVar Miner

Submissions for variant NC_000020.11:g.(?_36951416)_(36951663_?)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 RCV000815919 SCV000956398 pathogenic Aicardi-Goutieres syndrome 5 2019-09-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the SAMHD1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the SAMHD1 gene. This is expected to result in an absent or disrupted protein product. Gross deletions of exon 1 have been observed in individuals affected with Aicardi-Goutieres syndrome (PMID: 20653736, 24183309). Loss-of-function variants in SAMHD1 are known to be pathogenic (PMID: 19525956, 22461318). For these reasons, this variant has been classified as Pathogenic.

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