ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.915_918del (p.Phe305fs)

dbSNP: rs760163489
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535979 SCV001752646 pathogenic Amelogenesis imperfecta type 1G 2024-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002546414 SCV003442410 pathogenic not provided 2022-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1029473). This premature translational stop signal has been observed in individual(s) with clinical features of enamel renal syndrome (PMID: 23434854). This variant is present in population databases (rs760163489, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Phe305Leufs*76) in the FAM20A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAM20A are known to be pathogenic (PMID: 21990045, 23434854).
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001535979 SCV004805352 pathogenic Amelogenesis imperfecta type 1G 2024-03-25 criteria provided, single submitter research
GeneDx RCV002546414 SCV005689888 pathogenic not provided 2024-08-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28298625, 37228816, 37159186, 32835847, 21990045, 24927635, 23434854)
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV001535979 SCV003927870 pathogenic Amelogenesis imperfecta type 1G 2023-04-01 no assertion criteria provided clinical testing

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