ClinVar Miner

Submissions for variant NM_000099.4(CST3):c.73G>A (p.Ala25Thr)

gnomAD frequency: 0.20062  dbSNP: rs1064039
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
H3Africa Consortium RCV001777132 SCV002014628 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.229, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054421 SCV002489735 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490325 SCV002799026 benign Hereditary cerebral amyloid angiopathy, Icelandic type; Age related macular degeneration 11 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002054421 SCV005314930 benign not provided criteria provided, single submitter not provided
OMIM RCV000005989 SCV000026171 pathogenic Age related macular degeneration 11 2002-02-01 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000005989 SCV001142496 benign Age related macular degeneration 11 2020-01-06 no assertion criteria provided curation NM_000099.2:c.73G>A in the gene CST3 has an allele frequency of 0.297 in South Asian subpopulation in the gnomAD database. A total of 3515 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1; BS2.

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