ClinVar Miner

Submissions for variant NM_001319074.4(RAX2):c.465_475del (p.Ala156fs)

dbSNP: rs886041039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074414 SCV001239996 likely pathogenic Retinal dystrophy 2019-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001226451 SCV001398764 pathogenic not provided 2024-05-20 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the RAX2 gene (p.Ala156Argfs*131). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acid(s) of the RAX2 protein and extend the protein by 101 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individuals with autosomal dominant cone–rod dystrophy or retinitis pigmentosa (PMID: 25789692; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 208124). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001226451 SCV001803609 likely pathogenic not provided 2020-10-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 29 amino acids are replaced with 130 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25789692)
OMIM RCV000190344 SCV000243892 pathogenic Cone-rod dystrophy 11 2015-06-01 no assertion criteria provided literature only

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