ClinVar Miner

Submissions for variant NM_013291.3(CPSF1):c.2823_2824del (p.Val943fs)

gnomAD frequency: 0.00009  dbSNP: rs782640869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382048 SCV001580654 pathogenic not provided 2020-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val943Leufs*65) in the CPSF1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CPSF1 are known to be pathogenic (PMID: 30689892). This variant has been observed in individual(s) with early-onset high myopia (PMID: 30689892). This variant is also known as p.V943Sfs*13 in the literature. ClinVar contains an entry for this variant (Variation ID: 829516). This variant is present in population databases (rs782640869, ExAC 0.03%).
CeGaT Center for Human Genetics Tuebingen RCV001382048 SCV004184758 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing CPSF1: PVS1:Moderate, PP4
OMIM RCV001029439 SCV001192225 pathogenic Myopia 27 2020-03-27 no assertion criteria provided literature only

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