ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val)

dbSNP: rs1436841364
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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 RCV000636954 SCV000758402 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1155 of the RPGRIP1L protein (p.Ala1155Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with RPGRIP1L-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 530898). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RPGRIP1L protein function. 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 RCV002483811 SCV002804026 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-12-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835022 SCV002087506 uncertain significance Familial aplasia of the vermis 2021-05-07 no assertion criteria provided clinical testing

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