ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) (rs150268016)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000332641 SCV000472716 uncertain significance Farber disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000853063 SCV000994993 uncertain significance not provided 2018-10-30 criteria provided, single submitter clinical testing The Y207F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Y207F variant is observed in 95/126,696 (0.07%) alleles from individuals of European background (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656012 SCV000588288 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
GenomeConnect, ClinGen RCV000709958 SCV000840320 not provided Jankovic Rivera syndrome; Farber disease no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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