ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.961G>A (p.Ala321Thr)

dbSNP: rs1558480612
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681134 SCV000808592 uncertain significance not provided 2022-12-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29493581)
Ambry Genetics RCV002386154 SCV002694156 uncertain significance Cardiovascular phenotype 2023-12-11 criteria provided, single submitter clinical testing The p.A321T variant (also known as c.961G>A), located in coding exon 7 of the SOS1 gene, results from a G to A substitution at nucleotide position 961. The alanine at codon 321 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002467990 SCV002763480 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467989 SCV002763481 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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