ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.148GAG[2] (p.Glu52del)

dbSNP: rs528451151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243379 SCV001416533 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This variant, c.154_156del, results in the deletion of 1 amino acid(s) of the FAM161A protein (p.Glu52del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs528451151, gnomAD 0.1%). 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: 968278). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001835168 SCV002079067 uncertain significance Retinitis pigmentosa 28 2020-12-03 no assertion criteria provided clinical testing

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