ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3908A>C (p.Asn1303Thr) (rs397508636)

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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 RCV000586199 SCV000697000 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing Variant summary: The CFTR c.3908A>C (p.Asn1303Thr) variant involves the alteration of a conserved nucleotide located in the P-loop containing nucleoside triphosphate hydrolase domain and ABC transporter-like domain of the protein (InterPro). 4/4 in silico tools predict a damaging outcome for this variant. This variant is absent in 120262 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Variant involving the same nucleotide and/or same codon such as c.3908A>T/p.N1303I, c.3907A>C/N1303H, c.3909C>G/N1303K have been reported in multiple affected individuals, suggesting this is a mutation hotspot. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance-possibly pathogenic until additional information becomes available.

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