ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.670G>A (p.Asp224Asn)

dbSNP: rs1432897923
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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 RCV001351041 SCV001545474 uncertain significance not provided 2020-01-27 criteria provided, single submitter clinical testing 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. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RBP3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 224 of the RBP3 protein (p.Asp224Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine.
Ambry Genetics RCV005262427 SCV005929795 uncertain significance Inborn genetic diseases 2024-12-25 criteria provided, single submitter clinical testing The c.670G>A (p.D224N) alteration is located in exon 1 (coding exon 1) of the RBP3 gene. This alteration results from a G to A substitution at nucleotide position 670, causing the aspartic acid (D) at amino acid position 224 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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