ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3075+19C>T

gnomAD frequency: 0.00022  dbSNP: rs200459376
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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 RCV002168453 SCV002425837 likely benign Noonan syndrome 9 2023-11-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526914 SCV005039143 benign not specified 2024-03-25 criteria provided, single submitter clinical testing Variant summary: SOS2 c.3075+19C>T alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00015 in 241070 control chromosomes. The observed variant frequency is approximately 60 fold of the estimated maximal expected allele frequency for a pathogenic variant in SOS2 causing Noonan Syndrome phenotype (2.5e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.3075+19C>T in individuals affected with Noonan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1612194). Based on the evidence outlined above, the variant was classified as benign.

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