ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.134A>G (p.Asp45Gly)

gnomAD frequency: 0.00095  dbSNP: rs201559220
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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) RCV000173393 SCV000224502 uncertain significance not provided 2015-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000173393 SCV001724433 benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516583 SCV003634335 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The c.134A>G (p.D45G) alteration is located in exon 1 (coding exon 1) of the PROM1 gene. This alteration results from a A to G substitution at nucleotide position 134, causing the aspartic acid (D) at amino acid position 45 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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