ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.271G>A (p.Val91Ile) (rs759197325)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556071 SCV000646284 uncertain significance Carney complex, type 1 2017-11-28 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 91 of the PRKAR1A protein (p.Val91Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a PRKAR1A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on PRKAR1A function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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