ClinVar Miner

Submissions for variant NM_012424.6(RPS6KC1):c.3074G>A (p.Arg1025His)

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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 RCV002653434 SCV002972633 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1937763). This variant has not been reported in the literature in individuals affected with RPS6KC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1025 of the RPS6KC1 protein (p.Arg1025His).
Ambry Genetics RCV004066680 SCV003973180 uncertain significance not specified 2023-04-25 criteria provided, single submitter clinical testing The c.3074G>A (p.R1025H) alteration is located in exon 14 (coding exon 14) of the RPS6KC1 gene. This alteration results from a G to A substitution at nucleotide position 3074, causing the arginine (R) at amino acid position 1025 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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