ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn)

gnomAD frequency: 0.00002  dbSNP: rs759934290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002044662 SCV002116236 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-11-20 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 706 of the RPGRIP1L protein (p.Lys706Asn). This variant is present in population databases (rs759934290, gnomAD 0.004%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002489938 SCV002780457 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247047 SCV003982587 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The c.2118A>C (p.K706N) alteration is located in exon 15 (coding exon 14) of the RPGRIP1L gene. This alteration results from a A to C substitution at nucleotide position 2118, causing the lysine (K) at amino acid position 706 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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