ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg)

gnomAD frequency: 0.00003  dbSNP: rs370528448
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839292 SCV002099277 uncertain significance Noonan syndrome 4 2021-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359275 SCV002620179 uncertain significance Cardiovascular phenotype 2022-03-10 criteria provided, single submitter clinical testing The p.T1269R variant (also known as c.3806C>G), located in coding exon 23 of the SOS1 gene, results from a C to G substitution at nucleotide position 3806. The threonine at codon 1269 is replaced by arginine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Genome-Nilou Lab RCV001839292 SCV002763201 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468328 SCV002763202 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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