ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs)

dbSNP: rs1680484812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001251495 SCV001427198 pathogenic Renal tubular acidosis with progressive nerve deafness 2019-03-19 criteria provided, single submitter clinical testing A homozygous frameshift deletion variant, NM_001692.3(ATP6V1B1):c.183del, has been identified in exon 3 of 14 of the ATP6V1B1 gene. This deletion is predicted to create a frameshift starting at amino acid position 61, introducing a stop codon 103 residues downstream (NP_001683.2(ATP6V1B1):p.(Gln61Hisfs*103)). This variant is predicted to result in loss of protein function either through truncation (including the V-ATPase_V1_B domain) or nonsense-mediated decay, which is a reported mechanism of pathogenicity for this gene. The variant is absent in population databases (gnomAD). This variant has not been previously reported in clinical cases, however, homozygous and compound heterozygous variants predicted to result in nonsense-mediated decay have previously been shown to cause Renal tubular acidosis with deafness (ClinVar, HGMD, Karet, F. et al. (1999)). Based on the information available at the time of curation, this variant has been classified as PATHOGENIC.
Invitae RCV001879825 SCV002229512 pathogenic not provided 2021-04-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ATP6V1B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 975088). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln61Hisfs*103) in the ATP6V1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP6V1B1 are known to be pathogenic (PMID: 9916796, 18368028).

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