ClinVar Miner

Submissions for variant NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) (rs74315396)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724561 SCV000229153 pathogenic not provided 2015-02-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763444 SCV000894215 pathogenic McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000824067 SCV000964948 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2019-03-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 37 of the MKKS protein (p.Tyr37Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs74315396, ExAC 0.01%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual with Bardet-Biedl syndrome (PMID: 10802661). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 5309). Experimental studies have shown that this missense change results in the formation of a unstable, rapidly degraded protein (PMID: 20498079, 18094050). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075509 SCV001241133 pathogenic Retinal dystrophy 2018-11-16 criteria provided, single submitter clinical testing
OMIM RCV000005633 SCV000025815 pathogenic McKusick-Kaufman syndrome 2001-09-21 no assertion criteria provided literature only
OMIM RCV000005634 SCV000025816 pathogenic Bardet-Biedl syndrome 6 2001-09-21 no assertion criteria provided literature only
OMIM RCV000144678 SCV000190011 pathogenic Bardet-biedl syndrome 2/6, digenic 2001-09-21 no assertion criteria provided literature only

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