ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.1345G>A (p.Val449Ile)

gnomAD frequency: 0.00002  dbSNP: rs572512491
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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 RCV003319992 SCV004024258 uncertain significance Open-angle glaucoma 2023-08-07 reviewed by expert panel curation The c.1345G>A variant in MYOC is a missense variant predicted to cause substitution of Valine by Isoleucine at amino acid 449 (p.Val449Ile). The highest minor allele frequency of this variant was in the South Asian population of gnomAD (v2.1.1) = 0.0002940 (9 alleles out of 30,616), which did not meet the PM2_Supporting allele frequency threshold (<= 0.0001) or the BS1 allele frequency threshold (>= 0.001). The REVEL score = 0.181, which was neither above nor below the thresholds for PP3 (>= 0.7) or BP4 (<= 0.15), predicting a damaging or benign impact on MYOC function. There was no functional evidence predicting a damaging or benign impact of this variant on MYOC function. This variant has not yet been identified in a proband with juvenile or primary open angle glaucoma, only in a participant of the control cohort. Additionally, as PM2_Supporting was not met, PS4 did not apply. In summary, this variant did not meet any criteria, receiving a score of 0 and a classification 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): none.
Illumina Laboratory Services, Illumina RCV001098516 SCV001254887 uncertain significance Glaucoma 2017-04-28 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 RCV001098517 SCV001254888 uncertain significance Glaucoma 1, open angle, A 2017-04-28 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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