ClinVar Miner

Submissions for variant NM_013328.4(PYCR2):c.400G>A (p.Val134Met)

dbSNP: rs1671854827
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University RCV001264780 SCV001250652 likely pathogenic Hypomyelinating leukodystrophy 10 criteria provided, single submitter research The c.400G>A (p.Val134Met) in PYCR2 located in NAD(P)-binding domain. The missense mutation in this domain was previously reported in patients with hypomyelinating leukodystrophy 10 (Nakayama et al., 2015). The variant is classified as likely pathogenic using ACMG guideline with the following evidence; PM1, PM2, PP2, PP3 and PP4.

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