ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)

gnomAD frequency: 0.00004  dbSNP: rs181275468
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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 RCV000807019 SCV000947045 likely benign Noonan syndrome 9 2024-01-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282373 SCV002572237 likely benign not specified 2022-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994025 SCV005509572 uncertain significance Cardiovascular phenotype 2024-09-26 criteria provided, single submitter clinical testing The c.2261G>A (p.S754N) alteration is located in exon 14 (coding exon 14) of the SOS2 gene. This alteration results from a G to A substitution at nucleotide position 2261, causing the serine (S) at amino acid position 754 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 RCV001261124 SCV001438531 likely benign Noonan syndrome no assertion criteria provided clinical testing

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