ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu)

gnomAD frequency: 0.00002  dbSNP: rs374152623
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074145 SCV001239714 uncertain significance Retinal dystrophy 2019-01-25 criteria provided, single submitter clinical testing
Invitae RCV001368631 SCV001565032 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 709 of the ABCA4 protein (p.Ser709Leu). This variant is present in population databases (rs374152623, gnomAD 0.008%). 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: 866280). 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 not expected to disrupt ABCA4 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002554700 SCV003744668 uncertain significance Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing The c.2126C>T (p.S709L) alteration is located in exon 14 (coding exon 14) of the ABCA4 gene. This alteration results from a C to T substitution at nucleotide position 2126, causing the serine (S) at amino acid position 709 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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