ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)

dbSNP: rs757302286
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074567 SCV001240158 pathogenic Retinal dystrophy 2018-12-30 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376519 SCV001573697 pathogenic Severe early-childhood-onset retinal dystrophy 2021-04-08 criteria provided, single submitter research The ABCA4 c.1995C>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PVS1, PP1, PM3. Based on this evidence we have classified this variant as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001381381 SCV001579751 pathogenic not provided 2024-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr665*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is present in population databases (rs757302286, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with ABCA4-related conditions (PMID: 19339744, 25474345, 28327576). ClinVar contains an entry for this variant (Variation ID: 866511). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001074567 SCV005068603 pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029680 SCV005661370 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-03-02 criteria provided, single submitter clinical testing

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