ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1542+1G>A

gnomAD frequency: 0.00002  dbSNP: rs550424284
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090340 SCV001245833 pathogenic not provided 2022-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001090340 SCV002019146 likely pathogenic not provided 2022-06-16 criteria provided, single submitter clinical testing
GeneDx RCV001090340 SCV003842932 pathogenic not provided 2023-03-13 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 25525159, 31301676, 32840096, 27535533, 12107247)
OMIM RCV003229567 SCV003922391 pathogenic Pseudohypoaldosteronism, type IB2, autosomal recessive 2023-12-06 no assertion criteria provided literature only
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003229567 SCV003927799 pathogenic Pseudohypoaldosteronism, type IB2, autosomal recessive 2023-04-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751879 SCV005347948 pathogenic SCNN1B-related disorder 2024-07-12 no assertion criteria provided clinical testing The SCNN1B c.1542+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported in the homozygous state in at least two unrelated individuals with pseudohypoaldosteronism type I (reported as 1669+1G>A in Saxena et al. 2002. PubMed ID: 12107247; Gopal-Kothandapani et al. 2019. PubMed ID: 31301676). This variant is reported in 0.0050% of alleles in individuals of East Asian descent in gnomAD. Variants that disrupt the consensus splice donor site in SCNN1B are expected to be pathogenic. This variant is interpreted as pathogenic for autosomal recessive SCNN1B-related disorders.

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