ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala)

gnomAD frequency: 0.00009  dbSNP: rs61755576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000429991 SCV000510762 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000607638 SCV000719304 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000652817 SCV000774689 likely benign Noonan syndrome 9 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168619 SCV003911934 uncertain significance Cardiovascular phenotype 2024-03-12 criteria provided, single submitter clinical testing The c.3235A>G (p.T1079A) alteration is located in exon 20 (coding exon 20) of the SOS2 gene. This alteration results from a A to G substitution at nucleotide position 3235, causing the threonine (T) at amino acid position 1079 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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