ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)

dbSNP: rs768409471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816971 SCV000957503 pathogenic Aicardi-Goutieres syndrome 5 2023-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 659887). This premature translational stop signal has been observed in individual(s) with Aicardi-Goutièressyndrome (PMID: 24183309). This variant is present in population databases (rs768409471, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Lys492Asnfs*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).
Fulgent Genetics, Fulgent Genetics RCV002495159 SCV002779992 likely pathogenic Aicardi-Goutieres syndrome 5; Chilblain lupus 2 2022-05-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830789 SCV002090974 pathogenic Aicardi Goutieres syndrome 2020-08-15 no assertion criteria provided clinical testing

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