ClinVar Miner

Submissions for variant NM_006907.4(PYCR1):c.67+2T>A

dbSNP: rs2041207320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Biology and Genetics, University of Brescia RCV001290341 SCV001478260 pathogenic Autosomal recessive cutis laxa type 2B criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004762051 SCV005341002 pathogenic PYCR1- related autosomal recessive cutis laxa criteria provided, single submitter clinical testing This canonical splice-site variant would result in aberrant splicing leading to either a truncated protein product or the mRNA of the transcript would be degraded through nonsense-mediated decay. Previously this variant, c.67+2T>A in a compound heterozygous state with another missense change in PYCR1 has been reported in a patient with PYCR1-related autosomal recessive cutis laxa (Ritelli et al, 2017).

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