ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880010 SCV002246632 uncertain significance Noonan syndrome 8 2024-04-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 126 of the RIT1 protein (p.Asp126Asn). This variant is present in population databases (rs760053864, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with RIT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 981606). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt RIT1 function with a negative predictive value of 95%. 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.
CeGaT Center for Human Genetics Tuebingen RCV003405469 SCV004124972 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035388 SCV005014280 uncertain significance Cardiovascular phenotype 2024-01-22 criteria provided, single submitter clinical testing The c.376G>A (p.D126N) alteration is located in exon 5 (coding exon 4) of the RIT1 gene. This alteration results from a G to A substitution at nucleotide position 376, causing the aspartic acid (D) at amino acid position 126 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261145 SCV001438554 uncertain significance Cardio-facio-cutaneous syndrome no assertion criteria provided clinical testing

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