ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val)

dbSNP: rs1553192420
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585482 SCV000692636 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing ABCA4: PM2, PM3
Blueprint Genetics RCV001073835 SCV001239399 uncertain significance Retinal dystrophy 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000585482 SCV001412146 likely pathogenic not provided 2023-04-09 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function. ClinVar contains an entry for this variant (Variation ID: 493045). This missense change has been observed in individual(s) with clinical features of ABCA4-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 679 of the ABCA4 protein (p.Glu679Val).

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