ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile) (rs145572901)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802680 SCV000942521 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2019-10-14 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 647 of the RPGRIP1L protein (p.Val647Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs145572901, ExAC 0.04%). This variant has been observed to be heterozygous in an individual affected with Leber congenital amaurosis who had another genetic cause of disease (PMID: 19430481). Experimental studies have shown that this missense change results in a protein that can recapitulate wild type protein function in some assays but not others (PMID: 19430481). 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.

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