ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.943A>T (p.Lys315Ter)

dbSNP: rs1572879569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001027886 SCV004195940 pathogenic Retinitis pigmentosa 28 2024-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003727839 SCV004536976 pathogenic not provided 2024-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys315*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 31236346). ClinVar contains an entry for this variant (Variation ID: 828065). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001027886 SCV005657107 pathogenic Retinitis pigmentosa 28 2024-04-03 criteria provided, single submitter clinical testing
OMIM RCV001027886 SCV001190609 pathogenic Retinitis pigmentosa 28 2020-03-26 no assertion criteria provided literature only

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