ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.142A>T (p.Arg48Ter)

gnomAD frequency: 0.00001  dbSNP: rs1766524422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045145 SCV001208980 pathogenic not provided 2022-09-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg48*) in the LCA5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LCA5 are known to be pathogenic (PMID: 17546029, 23946133). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 23946133). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 842687).
Baylor Genetics RCV003467738 SCV004191032 pathogenic Leber congenital amaurosis 5 2023-03-16 criteria provided, single submitter clinical testing

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