ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.625+1G>A

dbSNP: rs1601141002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000985138 SCV002295399 likely pathogenic Aicardi-Goutieres syndrome 5 2023-04-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 800934). Disruption of this splice site has been observed in individual(s) with Aicardi-Goutieres syndrome (PMID: 28454995, 29239743). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the SAMHD1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SAMHD1 are known to be pathogenic (PMID: 19525956, 22461318).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985138 SCV001133127 likely pathogenic Aicardi-Goutieres syndrome 5 2019-09-26 no assertion criteria provided clinical testing

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