ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.610G>T (p.Ala204Ser) (rs748026786)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586216 SCV000697037 uncertain significance not provided 2016-09-20 criteria provided, single submitter clinical testing Variant summary: The CFTR c.610G>T (p.Ala204Ser) variant involves the alteration of a conserved nucleotide. This variant is located in the transmembrane domain of the CFTR protein (InterPro). 3/4 in silico tools predict a benign outcome for this variant. This variant is absent in 121410 control chromosomes from ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories nor was it evaluated for functional impact by in vivo/vitro studies. Another missense change, p.Ala204Thr, affecting the same codon has been reported in a CF patient (PMID: 19017867). Due to the absence of clinical information and lack of functional studies, the variant is currently classified as a variant of uncertain significance (VUS) until additional information becomes available.

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