ClinVar Miner

Submissions for variant NM_013251.4(TAC3):c.248A>G (p.His83Arg)

gnomAD frequency: 0.00010  dbSNP: rs143862988
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chan Lab, Boston Children's Hospital RCV000156948 SCV000206669 likely pathogenic Delayed puberty 2014-11-01 criteria provided, single submitter case-control
Labcorp Genetics (formerly Invitae), Labcorp RCV001857549 SCV002170237 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 83 of the TAC3 protein (p.His83Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs143862988, ExAC 0.05%). This missense change has been observed in individual(s) with clinical features of TAC3-related conditions (PMID: 25636053, 29419413). ClinVar contains an entry for this variant (Variation ID: 180150). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
CeGaT Center for Human Genetics Tuebingen RCV001857549 SCV004133497 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing
MAGI's Lab - Research, MAGI Group RCV001327940 SCV001432718 pathogenic Infertility disorder no assertion criteria provided provider interpretation

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