ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.1313C>T (p.Thr438Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Glaucoma Variant Curation Expert Panel RCV003127210 SCV003803713 likely pathogenic Glaucoma of childhood 2023-02-15 reviewed by expert panel curation The c.1313C>T variant in MYOC is a missense variant predicted to cause substitution of Threonine by Isoleucine at amino acid 438 (p.Thr438Ile). This variant was not found in any population of gnomAD (v2.1.1), meeting the <=0.0001 threshold set for PM2_Supporting in a population of at least 10,000 alleles. The REVEL score = 0.734, which met the >=0.7 threshold for PP3, predicting a damaging effect on MYOC function. There was no functional evidence predicting a damaging or benign impact of this variant on MYOC function. 27 segregations in 4 families, with juvenile or primary open angle glaucoma (JOAG or POAG), have been reported (PMIDs: 12789574, 12872267, 25582056, 34923728), which fulfilled PP1_Strong >=7 meioses in >1 family. 4 probands with JOAG or POAG have been reported carrying this variant (PMIDs: 12789574, 12872267, 25582056, 34923728), which met PS4_Supporting (>=2 probands). In summary, this variant met the criteria to receive a score of 7 and to be classified as likely pathogenic (likely pathogenic classification range 6 to 9) for juvenile open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): PP1_Strong, PP3, PS4_Supporting, PM2_Supporting.

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