ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.121A>G (p.Asn41Asp)

gnomAD frequency: 0.00005  dbSNP: rs575983927
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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 RCV001952667 SCV002201459 benign Noonan syndrome 9 2023-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041990 SCV004957697 uncertain significance Cardiovascular phenotype 2024-01-24 criteria provided, single submitter clinical testing The c.121A>G (p.N41D) alteration is located in exon 2 (coding exon 2) of the SOS2 gene. This alteration results from a A to G substitution at nucleotide position 121, causing the asparagine (N) at amino acid position 41 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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