ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=)

gnomAD frequency: 0.00009  dbSNP: rs371992324
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000967652 SCV001115053 likely benign Aicardi-Goutieres syndrome 5 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438636 SCV004152692 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing SAMHD1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003943161 SCV004763760 likely benign SAMHD1-related condition 2019-03-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001827053 SCV002090983 likely benign Aicardi Goutieres syndrome 2021-02-26 no assertion criteria provided clinical testing

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