ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1719T>C (p.Asp573=)

gnomAD frequency: 0.00001  dbSNP: rs746674452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589104 SCV000698616 likely benign not provided 2016-08-01 criteria provided, single submitter clinical testing Variant summary: The SOS1 c.1719T>C (p.Asp573Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/121360 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.0003467 (3/8652). This frequency is about 12 times the estimated maximal expected allele frequency of a pathogenic SOS1 variant (0.00003), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as Likely benign until more evidence becomes available.
Ambry Genetics RCV003160000 SCV003863126 likely benign Cardiovascular phenotype 2022-11-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003655136 SCV004464159 likely benign RASopathy 2023-05-19 criteria provided, single submitter clinical testing

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