ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.1001G>A (p.Arg334His)

gnomAD frequency: 0.00001  dbSNP: rs146702985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066042 SCV001231035 uncertain significance Legius syndrome 2023-08-07 criteria provided, single submitter clinical testing 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. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt SPRED1 function. ClinVar contains an entry for this variant (Variation ID: 859841). This variant has not been reported in the literature in individuals affected with SPRED1-related conditions. This variant is present in population databases (rs146702985, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 334 of the SPRED1 protein (p.Arg334His).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813573 SCV002060927 uncertain significance Noonan syndrome and Noonan-related syndrome 2017-05-30 criteria provided, single submitter clinical testing

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