ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg)

dbSNP: rs769647986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004041012 SCV003584526 uncertain significance Cardiovascular phenotype 2021-09-17 criteria provided, single submitter clinical testing The c.1208C>G (p.P403R) alteration is located in exon 11 (coding exon 11) of the PRDM5 gene. This alteration results from a C to G substitution at nucleotide position 1208, causing the proline (P) at amino acid position 403 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV001825251 SCV002075035 not provided Brittle cornea syndrome 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-09-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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