ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3839AAG[3] (p.Glu1281dup)

dbSNP: rs1175436231
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klaassen Lab, Charite University Medicine Berlin RCV000853116 SCV000995827 uncertain significance Primary dilated cardiomyopathy 2019-07-03 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001359780 SCV001555665 uncertain significance RASopathy 2020-09-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant, c.3842_3844dup, results in the insertion of 1 amino acid(s) to the SOS1 protein (p.Glu1281dup), but otherwise preserves the integrity of the reading frame. This variant has been observed in individual(s) with pediatric onset dilated cardiomyopathy (PMID: 31568572). This variant is also known as c.3841_3843dup. ClinVar contains an entry for this variant (Variation ID: 691808). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV002468075 SCV002763192 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468074 SCV002763193 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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