ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.103G>C (p.Glu35Gln)

gnomAD frequency: 0.00095  dbSNP: rs200290535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173394 SCV000224503 uncertain significance not provided 2015-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000173394 SCV001727596 benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517664 SCV003626667 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The c.103G>C (p.E35Q) alteration is located in exon 1 (coding exon 1) of the PROM1 gene. This alteration results from a G to C substitution at nucleotide position 103, causing the glutamic acid (E) at amino acid position 35 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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