ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1606A>C (p.Lys536Gln)

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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 RCV002805583 SCV003021121 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 536 of the RPGRIP1L protein (p.Lys536Gln). This variant is present in population databases (rs763271989, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002770703 SCV003553151 uncertain significance Inborn genetic diseases 2022-01-21 criteria provided, single submitter clinical testing The c.1606A>C (p.K536Q) alteration is located in exon 14 (coding exon 13) of the RPGRIP1L gene. This alteration results from a A to C substitution at nucleotide position 1606, causing the lysine (K) at amino acid position 536 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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