ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.1385T>A (p.Phe462Tyr) (rs730881043)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159167 SCV000209112 likely pathogenic not provided 2013-01-25 criteria provided, single submitter clinical testing p.Phe462Tyr (TTT>TAT): c.1385 T>A in exon 10 of the SOS1 gene (NM_005633.3). The F462Y missense change in the SOS1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The F462Y amino acid substitution is non-conservative with a non-polar residue (Phe) being replaced by a polar residue (Tyr). The F462 codon is within the highly conserved pleckstrin-homology domain where other disease-causing missense mutations (E433K and G434R) have been reported. However, while many missense changes in SOS1 are pathogenic, several benign coding polymorphisms have also been identified in this gene. The NHLBI ESP Exome Variant Server reports that F462Y was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. The variant is found in NOONAN panel(s).
Mendelics RCV000986625 SCV001135667 uncertain significance Noonan syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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