ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1880A>C (p.Lys627Thr)

gnomAD frequency: 0.00002  dbSNP: rs377035693
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242577 SCV001415673 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 627 of the RPGRIP1L protein (p.Lys627Thr). This variant is present in population databases (rs377035693, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 967617). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294449 SCV002587160 uncertain significance Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002564033 SCV003756724 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.1880A>C (p.K627T) 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 1880, causing the lysine (K) at amino acid position 627 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280341 SCV001467517 uncertain significance Familial aplasia of the vermis 2020-04-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004538506 SCV004727049 uncertain significance RPGRIP1L-related disorder 2024-06-04 no assertion criteria provided clinical testing The RPGRIP1L c.1880A>C variant is predicted to result in the amino acid substitution p.Lys627Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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