ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.462_464dup (p.His155dup)

dbSNP: rs1895993278
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001345832 SCV001539978 uncertain significance Legius syndrome 2023-05-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1041948). This variant has not been reported in the literature in individuals affected with SPRED1-related conditions. This variant, c.462_464dup, results in the insertion of 1 amino acid(s) of the SPRED1 protein (p.His155dup), but otherwise preserves the integrity of the reading frame.

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