ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.332G>A (p.Arg111His)

gnomAD frequency: 0.00012  dbSNP: rs368652424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336199 SCV000373875 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520758 SCV003738044 likely benign Inborn genetic diseases 2022-06-06 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.

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