ClinVar Miner

Submissions for variant NM_000477.7(ALB):c.714-2A>G

dbSNP: rs77335374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441722 SCV004170213 pathogenic not provided 2023-09-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Published functional studies demonstrate a damaging effect, specifically ligation of the exon 6 and 7 sequences (Ruffner et al., 1988); This variant is associated with the following publications: (PMID: 3353369, 22227324, 32553838)
OMIM RCV000019869 SCV000040167 pathogenic Analbuminemia 1988-04-01 no assertion criteria provided literature only

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