ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) (rs200897773)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436491 SCV000535068 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing The R4003W variant of uncertain significance in the ALMS1 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant has been identified, both independently and in conjunction with additional variants, in at least four unrelated individuals referred for cardiac genetic testing at GeneDx, although no second variant in the ALMS1 gene was reported in these individuals. The R4003W variant is observed in 63/126,576 alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). R4003W 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. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.
Invitae RCV000464330 SCV000541347 benign Alstrom syndrome 2019-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000464330 SCV000897050 uncertain significance Alstrom syndrome 2018-10-31 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV000464330 SCV001160898 likely pathogenic Alstrom syndrome 2019-06-23 no assertion criteria provided research

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