ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.782del (p.Asp261fs)

dbSNP: rs1178184685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857217 SCV002130216 pathogenic not provided 2023-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 438167). This premature translational stop signal has been observed in individual(s) with FAM161A-related conditions (PMID: 28041643, 32581362). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Asp261Valfs*39) in the FAM161A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAM161A are known to be pathogenic (PMID: 20705278, 20705279, 24651477).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505120 SCV000599106 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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