ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.338A>G (p.Tyr113Cys)

gnomAD frequency: 0.00001  dbSNP: rs374854636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284260 SCV001469942 uncertain significance not provided 2020-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537931 SCV003537803 uncertain significance Inborn genetic diseases 2022-06-30 criteria provided, single submitter clinical testing The c.338A>G (p.Y113C) alteration is located in exon 5 (coding exon 4) of the VWF gene. This alteration results from a A to G substitution at nucleotide position 338, causing the tyrosine (Y) at amino acid position 113 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989670 SCV004807469 likely pathogenic von Willebrand disease type 1 2024-03-26 criteria provided, single submitter clinical testing

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