ClinVar Miner

Submissions for variant NM_018993.4(RIN2):c.404G>A (p.Arg135His)

gnomAD frequency: 0.00009  dbSNP: rs200460217
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001569422 SCV001793495 likely benign not provided 2019-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001569422 SCV002288319 uncertain significance not provided 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 135 of the RIN2 protein (p.Arg135His). This variant is present in population databases (rs200460217, gnomAD 0.09%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with RIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1203399). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002568452 SCV003691606 uncertain significance Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.404G>A (p.R135H) alteration is located in exon 4 (coding exon 4) of the RIN2 gene. This alteration results from a G to A substitution at nucleotide position 404, causing the arginine (R) at amino acid position 135 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023199 SCV005656391 uncertain significance RIN2 syndrome 2024-01-11 criteria provided, single submitter clinical testing

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