ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.1609-1G>C

dbSNP: rs515726143
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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 RCV000114350 SCV001544666 uncertain significance Aicardi-Goutieres syndrome 5 2020-11-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 of the SAMHD1 gene. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Studies have shown that this variant is associated with skipping of exon 15 but is expected to preserve the integrity of the reading-frame (PMID: 19525956). This variant has been observed in individual(s) with Aicardi-Goutières syndrome (PMID: 19525956). ClinVar contains an entry for this variant (Variation ID: 126409). This variant is present in population databases (rs515726143, ExAC 0.006%).
OMIM RCV000114350 SCV000024449 pathogenic Aicardi-Goutieres syndrome 5 2009-07-01 no assertion criteria provided literature only
GeneReviews RCV000114350 SCV000147926 not provided Aicardi-Goutieres syndrome 5 no assertion provided literature only

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