ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.547G>T (p.Gly183Ter)

dbSNP: rs374255033
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052372 SCV001216581 pathogenic Leber congenital amaurosis 4 2022-11-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 848588). This premature translational stop signal has been observed in individual(s) with clinical features of Leber congenital amaurosis (PMID: 17964524). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly183*) in the AIPL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AIPL1 are known to be pathogenic (PMID: 10615133, 15249368, 15347646).

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