ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2304G>T (p.Gln768His)

dbSNP: rs778281839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685485 SCV000812967 uncertain significance Noonan syndrome 9 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026199 SCV005025073 uncertain significance Cardiovascular phenotype 2023-12-15 criteria provided, single submitter clinical testing The p.Q768H variant (also known as c.2304G>T), located in coding exon 14 of the SOS2 gene, results from a G to T substitution at nucleotide position 2304. The glutamine at codon 768 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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