ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2293_2301del (p.His765_Gln767del)

dbSNP: rs1555602657
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537407 SCV000634607 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2017-03-21 criteria provided, single submitter clinical testing In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RPGRIP1L-related disease. This sequence change deletes 9 nucleotides from exon 16 of the RPGRIP1L mRNA (c.2293_2301del). This leads to the deletion of 3 amino acid residues in the RPGRIP1L protein (p.His765_Gln767del) but otherwise preserves the integrity of the reading frame.

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