ClinVar Miner

Submissions for variant NC_000017.10:g.(?_66518887)_(66519077_?)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 RCV004581304 SCV005065398 likely pathogenic Carney complex, type 1 2023-08-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the PRKAR1A gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. 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. Experimental studies have shown that a similar copy number variant affects PRKAR1A function (PMID: 18223213, 18241045). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. A similar copy number variant has been observed in individual(s) with Carney complex (PMID: 18223213).

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