ClinVar Miner

Submissions for variant NM_001312909.2(FAM111A):c.1714_1716del (p.Ile572del)

gnomAD frequency: 0.00003  dbSNP: rs779963813
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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 RCV001865115 SCV002121314 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing This variant, c.1714_1716del, results in the deletion of 1 amino acid(s) of the FAM111A protein (p.Ile572del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs779963813, gnomAD 0.02%). This variant has been observed in individual(s) with hypoparathyroidism and/or Kenny-Caffey syndrome (PMID: 31433868, 34382758). ClinVar contains an entry for this variant (Variation ID: 1361113). 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.
GeneDx RCV001865115 SCV005080407 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31433868, 37122511, 34382758)

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