ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe)

gnomAD frequency: 0.00001  dbSNP: rs777908204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335927 SCV001529187 uncertain significance Charcot-Marie-Tooth disease axonal type 2Q 2018-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871879 SCV002183671 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2022-06-21 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1033500). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs777908204, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 307 of the DHTKD1 protein (p.Ser307Phe).

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