ClinVar Miner

Submissions for variant NM_000743.5(CHRNA3):c.1001C>A (p.Thr334Lys)

gnomAD frequency: 0.00002  dbSNP: rs79115483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003051243 SCV003450344 uncertain significance not provided 2022-06-19 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with CHRNA3-related conditions. This variant is present in population databases (rs79115483, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 334 of the CHRNA3 protein (p.Thr334Lys).
Ambry Genetics RCV003269404 SCV003948334 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The c.1001C>A (p.T334K) alteration is located in exon 5 (coding exon 5) of the CHRNA3 gene. This alteration results from a C to A substitution at nucleotide position 1001, causing the threonine (T) at amino acid position 334 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005010928 SCV005633137 uncertain significance Urinary bladder, atony of; SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 2024-02-19 criteria provided, single submitter clinical testing

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