ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) (rs104886308)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518046 SCV000612999 likely pathogenic not provided 2017-12-30 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000518046 SCV000809274 pathogenic not provided 2018-09-16 criteria provided, single submitter research
Invitae RCV000518046 SCV000961772 pathogenic not provided 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1677 of the COL4A5 protein (p.Arg1677Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs104886308, ExAC 0.004%). This variant has been observed in several individuals with adult-onset Alport syndrome and has been observed to segregate with adult-onset Alport syndrome in a family (PMID: 9150741, 19919694, 20378821). ClinVar contains an entry for this variant (Variation ID: 10467). Experimental studies have shown that this missense change results in reduced collagen alpha 5(IV) secretion in a mouse model system (PMID: 18083113). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011213 SCV000031440 pathogenic Alport syndrome 1, X-linked recessive 2003-06-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000011213 SCV000042333 moderate Alport syndrome 1, X-linked recessive 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.
GeneReviews RCV000011213 SCV000057826 pathologic Alport syndrome 1, X-linked recessive 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000011213 SCV000925849 pathogenic Alport syndrome 1, X-linked recessive 2019-02-13 no assertion criteria provided clinical testing

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