ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.573T>A (p.Thr191=)

dbSNP: rs145981631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Glaucoma Variant Curation Expert Panel RCV003225959 SCV003922086 uncertain significance Open-angle glaucoma 2023-05-02 reviewed by expert panel curation The c.573T>A variant in MYOC is a synonymous variant (p.Thr191=). The highest minor allele frequency of this variant was in the European non-Finnish) population of gnomAD (v2.1.1) = 0.00002639 (3 alleles out of 113674), which met the <=0.0001 threshold set for PM2_Supporting in a population of at least 10,000 alleles. This variant was not predicted to affect splicing, as assessed with SpliceAI (<=0.2), with a CADD score (v1.6) = 0.285 which met the <=10 threshold for BP4, and the GERP score = -3.14 (threshold < 0), indicating a lack of conservation at this site (BP7). This evidence suggests that the variant does not impact MYOC function. There was no functional evidence predicting a damaging or benign impact of this variant on MYOC function. This variant was identified in laboratory based testing, but has not yet been found in a proband with juvenile or primary open angle glaucoma, thus PS4 did not apply. In summary, this variant met the criteria to receive a score of -1 and to be classified as a variant of uncertain significance (uncertain significance classification range -1 to 5) for primary open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): BP4, BP7, PM2_Supporting
Illumina Laboratory Services, Illumina RCV001102367 SCV001259037 uncertain significance Glaucoma 1, open angle, A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001102368 SCV001259038 uncertain significance Glaucoma 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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