ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)

dbSNP: rs145498634
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095540 SCV001251042 likely pathogenic Madras motor neuron disease 2020-03-31 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001203115 SCV001374262 uncertain significance Brown-Vialetto-van Laere syndrome 1 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 268 of the SLC52A3 protein (p.Arg268Trp). This variant is present in population databases (rs145498634, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC52A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 873320). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002411628 SCV002675972 uncertain significance Inborn genetic diseases 2022-05-12 criteria provided, single submitter clinical testing The p.R268W variant (also known as c.802C>T), located in coding exon 2 of the SLC52A3 gene, results from a C to T substitution at nucleotide position 802. The arginine at codon 268 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration was detected in the homozygous state in an individual with Madras motor neuron disease; however, clinical details were limited (Tunca C et al. Hum Mutat, 2020 08;41:e7-e45). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV003483781 SCV004229045 likely pathogenic Auditory neuropathy 2023-12-22 criteria provided, single submitter research

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