ClinVar Miner

Submissions for variant NM_006907.4(PYCR1):c.386_387insCGCA (p.Glu130fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003314486 SCV004013879 likely pathogenic PYCR1-related de Barsy syndrome criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV005029976 SCV005652839 likely pathogenic Autosomal recessive cutis laxa type 2B; PYCR1-related de Barsy syndrome 2024-05-03 criteria provided, single submitter clinical testing

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