ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1714G>A (p.Val572Ile)

gnomAD frequency: 0.00001  dbSNP: rs762733592
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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 RCV001914245 SCV002195226 likely benign Noonan syndrome 9 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044057 SCV004957698 uncertain significance Cardiovascular phenotype 2024-02-05 criteria provided, single submitter clinical testing The c.1714G>A (p.V572I) alteration is located in exon 10 (coding exon 10) of the SOS2 gene. This alteration results from a G to A substitution at nucleotide position 1714, causing the valine (V) at amino acid position 572 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004746510 SCV005347239 uncertain significance SOS2-related disorder 2024-04-04 no assertion criteria provided clinical testing The SOS2 c.1714G>A variant is predicted to result in the amino acid substitution p.Val572Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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