ClinVar Miner

Submissions for variant NC_000008.10:g.(?_101174509)_(101174668_?)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 RCV001975048 SCV002247460 pathogenic Primary ciliary dyskinesia 28 2023-12-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the SPAG1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAG1 are known to be pathogenic (PMID: 24055112). A similar copy number variant has been observed in individual(s) with primary ciliary dyskinesia (PMID: 24055112, 27637300). For these reasons, this variant has been classified as Pathogenic.

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