ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1177-7C>T

dbSNP: rs1488754125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001007585 SCV001167231 uncertain significance Autosomal recessive pseudohypoaldosteronism type 1 2019-10-21 criteria provided, single submitter clinical testing SCNN1G c.1177-7C>T has not been reported in ClinVar nor the literature, to our knowledge. This SCNN1G variant (rs1488754125) is rare (<0.1%) in a large population dataset (gnomAD: 1/251356 total alleles; 0.0003978%; no homozygotes). Bioinformatic analysis predicts that this intronic variant would not affect normal exon 8 splicing although this has not been confirmed experimentally to our knowledge. Due to lack of segregation information and functional data, we consider the clinical significance of c.1177-7C>T to be uncertain at this time.

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