ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter)

gnomAD frequency: 0.00004  dbSNP: rs61732609
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578723 SCV000680519 pathogenic not provided 2023-04-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Published functional studies demonstrate a damaging effect, as variant results in absence of protein due to proteolytic degradation (Davis et al., 2004); This variant is associated with the following publications: (PMID: 23113554, 18318771, 23594618, 29375859, 31898843, 25525159, 15953014, 18202104, 15488472, 10874300)
Revvity Omics, Revvity Omics RCV003485516 SCV004235469 pathogenic Deficiency of cytochrome-b5 reductase 2023-06-28 criteria provided, single submitter clinical testing
Invitae RCV000578723 SCV004300035 pathogenic not provided 2023-01-20 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with methemoglobinemia type II (PMID: 10874300). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 248). This variant is present in population databases (rs61732609, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg160*) in the CYB5R3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYB5R3 are known to be pathogenic (PMID: 18318771).
OMIM RCV000000272 SCV000020416 pathogenic Methemoglobinemia type 2 2000-01-01 no assertion criteria provided literature only

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