ClinVar Miner

Submissions for variant NM_001395891.1(CLASP1):c.196-620C>T

gnomAD frequency: 0.00037  dbSNP: rs377619732
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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 RCV001974413 SCV002264363 uncertain significance not provided 2023-12-26 criteria provided, single submitter clinical testing This variant occurs in the RNU4ATAC gene, which encodes an RNA molecule that does not result in a protein product. This variant is present in population databases (rs377619732, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with RNU4ATAC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1478923). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002479647 SCV002790619 uncertain significance Osteodysplastic primordial dwarfism, type 1; Lowry-Wood syndrome; Roifman syndrome 2022-05-03 criteria provided, single submitter clinical testing

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