ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.992T>C (p.Leu331Ser)

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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 RCV003076649 SCV003449390 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 331 of the RPGRIP1L protein (p.Leu331Ser). This variant is present in population databases (no rsID available, 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV003171034 SCV003895626 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.992T>C (p.L331S) alteration is located in exon 8 (coding exon 7) of the RPGRIP1L gene. This alteration results from a T to C substitution at nucleotide position 992, causing the leucine (L) at amino acid position 331 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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