ClinVar Miner

Submissions for variant NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys)

gnomAD frequency: 0.00024  dbSNP: rs199882533
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075160 SCV001240772 pathogenic Retinal dystrophy 2018-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093124 SCV001249954 pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001093124 SCV001578007 pathogenic not provided 2024-12-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 543 of the TTLL5 protein (p.Glu543Lys). This variant is present in population databases (rs199882533, gnomAD 0.06%). This missense change has been observed in individuals with retinal dystrophy (PMID: 24791901, 28173158). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 139517). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TTLL5 protein function. Experimental studies have shown that this missense change affects TTLL5 function (PMID: 27162334). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075160 SCV005073123 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
OMIM RCV000128418 SCV000172095 pathogenic Cone-rod dystrophy 19 2014-05-01 no assertion criteria provided literature only

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