ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.28A>G (p.Ile10Val)

gnomAD frequency: 0.00001  dbSNP: rs553548757
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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 RCV001953334 SCV002224180 uncertain significance Diamond-Blackfan anemia 5 2021-10-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RPL35A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 10 of the RPL35A protein (p.Ile10Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. 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.
PreventionGenetics, part of Exact Sciences RCV003407989 SCV004109350 uncertain significance RPL35A-related disorder 2023-03-07 criteria provided, single submitter clinical testing The RPL35A c.28A>G variant is predicted to result in the amino acid substitution p.Ile10Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-197678046-A-G). 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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