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: 5
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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.
Invitae 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
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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