ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.529-3C>T

gnomAD frequency: 0.00005  dbSNP: rs372122917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001293874 SCV001482536 uncertain significance Cerebrooculofacioskeletal syndrome 3 2020-12-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002541819 SCV003453907 uncertain significance not provided 2022-10-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 998179). This variant has not been reported in the literature in individuals affected with ERCC5-related conditions. This variant is present in population databases (rs372122917, gnomAD 0.009%). This sequence change falls in intron 5 of the ERCC5 gene. It does not directly change the encoded amino acid sequence of the ERCC5 protein. It affects a nucleotide within the consensus splice site.

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