ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.3520G>A (p.Gly1174Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004660918 SCV005159710 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.3520G>A (p.G1174S) alteration is located in exon 4 (coding exon 4) of the RBP3 gene. This alteration results from a G to A substitution at nucleotide position 3520, causing the glycine (G) at amino acid position 1174 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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