ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4621del (p.Leu1541_Ile1542insTer)

dbSNP: rs1557770132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779002 SCV000915443 uncertain significance ABCA4-related disorder 2018-10-17 criteria provided, single submitter clinical testing This variant is a stop-gained variant, which was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001385239 SCV001585004 pathogenic not provided 2020-09-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant has not been reported in the literature in individuals with ABCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 632120). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1542*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product.

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