ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)

gnomAD frequency: 0.00001  dbSNP: rs768019897
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092537 SCV001249082 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000985137 SCV001586766 pathogenic Aicardi-Goutieres syndrome 5 2024-02-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met216Valfs*2) in the SAMHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SAMHD1 are known to be pathogenic (PMID: 19525956, 22461318). This variant is present in population databases (rs768019897, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Aicardi-Goutieres syndrome (PMID: 26273690, 28454995). ClinVar contains an entry for this variant (Variation ID: 800933). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000985137 SCV003834977 pathogenic Aicardi-Goutieres syndrome 5 2021-05-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029544 SCV005661837 likely pathogenic Aicardi-Goutieres syndrome 5; Chilblain lupus 2 2024-05-09 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985137 SCV001133126 likely pathogenic Aicardi-Goutieres syndrome 5 2019-09-26 no assertion criteria provided clinical testing

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