ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.334+2dup

dbSNP: rs606231362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003517125 SCV004295328 pathogenic Autoimmune lymphoproliferative syndrome type 1 2023-05-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 7540117). ClinVar contains an entry for this variant (Variation ID: 16498). This variant has been observed in individual(s) with autoimmune lymphoproliferative syndrome (PMID: 7540117; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the FAS gene. It does not directly change the encoded amino acid sequence of the FAS protein. It affects a nucleotide within the consensus splice site.
OMIM RCV000017962 SCV000038241 pathogenic Autoimmune lymphoproliferative syndrome, type 1a 1995-06-16 no assertion criteria provided literature only

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