ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.1349A>G (p.Asn450Ser)

gnomAD frequency: 0.00001  dbSNP: rs1356088463
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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 RCV002509843 SCV002818495 uncertain significance Glaucoma 1, open angle, E 2022-12-14 reviewed by expert panel curation The c.1349A>G variant in MYOC is a missense variant predicted to cause substitution of Asparagine by Serine at amino acid 450 (p.Asn450Ser). The highest minor allele frequency of this variant was in the Ashkenazi Jewish population of gnomAD (v2.1.1) = 0.0001984 (2 alleles out of 10,080), which did not meet the PM2_Supporting allele frequency threshold (<=0.0001) or the BS1 allele frequency threshold (>= 0.001). The REVEL score = 0.551, 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. Although a proband with primary open angle glaucoma had been reported carrying this variant, PM2_Supporting was not met, therefore 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
Genetics and Molecular Pathology, SA Pathology RCV002466867 SCV002761711 uncertain significance Glaucoma 1, open angle, A 2020-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002571406 SCV003535000 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.1349A>G (p.N450S) alteration is located in exon 3 (coding exon 3) of the MYOC gene. This alteration results from a A to G substitution at nucleotide position 1349, causing the asparagine (N) at amino acid position 450 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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