ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.709G>T (p.Gly237Cys)

gnomAD frequency: 0.00001  dbSNP: rs139362090
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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 RCV002981249 SCV003702130 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing The c.709G>T (p.G237C) alteration is located in exon 1 (coding exon 1) of the RBP3 gene. This alteration results from a G to T substitution at nucleotide position 709, causing the glycine (G) at amino acid position 237 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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