ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1508A>T (p.Glu503Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003050792 SCV003444153 likely benign Noonan syndrome 9 2022-07-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004765646 SCV005380702 uncertain significance not specified 2024-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992460 SCV005509580 uncertain significance Cardiovascular phenotype 2024-12-04 criteria provided, single submitter clinical testing The c.1508A>T (p.E503V) alteration is located in exon 10 (coding exon 10) of the SOS2 gene. This alteration results from a A to T substitution at nucleotide position 1508, causing the glutamic acid (E) at amino acid position 503 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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