ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.1609-2A>G

dbSNP: rs1700306908
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001985834 SCV002265587 likely pathogenic Aicardi-Goutieres syndrome 5 2023-04-17 criteria provided, single submitter clinical testing 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. Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple RNA products (PMID: 19525956). ClinVar contains an entry for this variant (Variation ID: 1479994). Disruption of this splice site has been observed in individual(s) with Aicardi-Goutieres syndrome (PMID: 19525956). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 14 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).

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