ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.116T>C (p.Met39Thr)

dbSNP: rs2102590945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001807974 SCV002058302 uncertain significance Noonan syndrome 8 2022-01-03 criteria provided, single submitter clinical testing A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence . In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.7, 3CNET: 0.982). A missense variant is a common mechanism. It is not observed in the gnomAD v2.1.1 dataset, but it has been observed in patients with different diagnosis. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Ambry Genetics RCV004040927 SCV003607301 uncertain significance Cardiovascular phenotype 2022-03-31 criteria provided, single submitter clinical testing The c.116T>C (p.M39T) alteration is located in exon 3 (coding exon 2) of the RIT1 gene. This alteration results from a T to C substitution at nucleotide position 116, causing the methionine (M) at amino acid position 39 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001807974 SCV004050500 uncertain significance Noonan syndrome 8 2023-04-11 criteria provided, single submitter clinical testing

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