ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) (rs2227885)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444307 SCV000518409 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing The R362Q variant in the GJA1 gene has been published previously in the presence of a second GJA1 variant, in association with hypoplastic left heart syndrome in several unrelated individuals (Dasgupta et al., 2001). An in vitro functional study showed that the R362Q variant abolishes phosphorylation of the connexin43 channel regulation domain (Dasgupta et al., 2001). The variant is observed in 92/34416 (0.27%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). The R362Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001089368 SCV001002194 likely benign Oculodentodigital dysplasia, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000018511 SCV000038793 pathogenic Hypoplastic left heart syndrome 1 2001-08-08 no assertion criteria provided literature only
OMIM RCV000018512 SCV000038794 pathogenic Atrioventricular septal defect 3 2001-08-08 no assertion criteria provided literature only

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