ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met)

gnomAD frequency: 0.00003  dbSNP: rs142387463
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176677 SCV000228368 uncertain significance not provided 2015-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001040302 SCV001203865 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1239 of the RPGRIP1L protein (p.Val1239Met). This variant is present in population databases (rs142387463, gnomAD 0.01%). 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: 195977). 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: "Deleterious"; PolyPhen-2: "Probably 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.
Fulgent Genetics, Fulgent Genetics RCV002485146 SCV002793509 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271319 SCV001452404 uncertain significance Familial aplasia of the vermis 2019-11-11 no assertion criteria provided clinical testing

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