ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4067A>C (p.Gln1356Pro)

dbSNP: rs994570602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920965 SCV002188672 uncertain significance not provided 2022-04-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1356 of the ABCA4 protein (p.Gln1356Pro). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with retinitis pigmentosa (Invitae). 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. 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 RCV002556409 SCV003716175 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.4067A>C (p.Q1356P) alteration is located in exon 27 (coding exon 27) of the ABCA4 gene. This alteration results from a A to C substitution at nucleotide position 4067, causing the glutamine (Q) at amino acid position 1356 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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