ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5171G>C (p.Trp1724Ser)

dbSNP: rs1571256634
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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 RCV000994037 SCV001147329 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000994037 SCV001546384 uncertain significance not provided 2020-03-20 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with serine at codon 1724 of the ABCA4 protein (p.Trp1724Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ABCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 806161). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818107 SCV005073435 likely pathogenic Retinal dystrophy 2018-01-01 no assertion criteria provided clinical testing

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