ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg)

dbSNP: rs758413695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000985233 SCV001525095 uncertain significance Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2020-02-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001858617 SCV002301228 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 801003). This variant has not been reported in the literature in individuals affected with TBCD-related conditions. This variant is present in population databases (rs758413695, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 571 of the TBCD protein (p.Lys571Arg).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985233 SCV001133267 uncertain significance Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2019-09-26 no assertion criteria provided clinical testing

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