ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4276T>C (p.Ser1426Pro) (rs397508708)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589901 SCV000697022 uncertain significance not provided 2016-06-17 criteria provided, single submitter clinical testing Variant summary: The CFTR c.4276T>C (p.Ser1426Pro) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 3/121626 control chromosomes at a frequency of 0.0000247, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant was found in one CBAVD patient published in the literature in compound heterozygous state with deltaF508 (Steiner_Hum Mut_2011). The UMD database lists one reportedly unpublished CBAVD patient that also carried deltaF508 (phase unknown). Taken together, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available, including functional and/or co-segregation studies.
Counsyl RCV000665842 SCV000790028 uncertain significance Cystic fibrosis 2017-03-14 criteria provided, single submitter clinical testing
CFTR-France RCV001009481 SCV001169576 pathogenic CFTR-related disorders 2018-01-29 criteria provided, single submitter curation

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