Submissions for variant NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001389558	SCV001590953	pathogenic	not provided	2023-10-16	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gly24*) 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 variant has not been reported in the literature in individuals affected with FAM161A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1075859). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003226472	SCV003922802	likely pathogenic	Retinitis pigmentosa	2023-03-21	criteria provided, single submitter	clinical testing	Variant summary: FAM161A c.70G>T (p.Gly24X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 248270 control chromosomes (gnomAD). To our knowledge, no occurrence of c.70G>T in individuals affected with Retinitis Pigmentosa and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics	RCV003469759	SCV004195945	likely pathogenic	Retinitis pigmentosa 28	2024-01-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV003469759	SCV005657118	likely pathogenic	Retinitis pigmentosa 28	2024-04-02	criteria provided, single submitter	clinical testing

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