ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.42C>T (p.Ile14=) (rs202240122)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000126888 SCV000213067 likely benign Hereditary cancer-predisposing syndrome 2014-08-09 criteria provided, single submitter clinical testing
Color RCV000126888 SCV000685627 likely benign Hereditary cancer-predisposing syndrome 2016-11-29 criteria provided, single submitter clinical testing
Counsyl RCV000204527 SCV000792800 likely benign MYH-associated polyposis 2017-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000212696 SCV000170419 benign not specified 2014-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588897 SCV000697697 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing Variant summary: The MUTYH c.42C>T (p.Ile14Ile) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may not affect any ESE site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 9/121406 control chromosomes at a frequency of 0.0000741, which does not exceed the estimated maximal expected allele frequency of a pathogenic MUTYH variant (0.0045644). This variant has been reported in one polyposis patient (Aretz_2006) and one individual without clinical information (LOVD Insight). In addition, multiple clinical diagnostic laboratories classified this variant as benign/likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000204527 SCV000261164 likely benign MYH-associated polyposis 2017-12-27 criteria provided, single submitter clinical testing

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