ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met)

gnomAD frequency: 0.00006  dbSNP: rs185093512
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591844 SCV000702704 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073247 SCV001238783 uncertain significance Retinal dystrophy 2018-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591844 SCV001378125 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1572 of the ABCA4 protein (p.Thr1572Met). This variant is present in population databases (rs185093512, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 497936). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCA4 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002483586 SCV002786244 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2021-07-23 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001073247 SCV004707301 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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