ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.825T>C (p.Ser275=) (rs145009331)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426621 SCV000535127 likely benign not specified 2016-12-29 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 RCV000426621 SCV000864086 uncertain significance not specified 2017-01-03 criteria provided, single submitter clinical testing Variant summary: The ALMS1 c.822T>C (p.Ser274Ser alternative c.825T>C) 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. 5/5 splice prediction tools predict no significant impact on normal splicing and 2/5 splice prediction tools predict that this variant may weaken a crytic 5' splicing donor site. ESE finder predicts that this variant may affect ESE site of SC35. However, these predictions have yet to be confirmed by functional studies. This variant was found in 10/119426 control chromosomes at a frequency of 0.0000837, which does not exceed the estimated maximal expected allele frequency of a pathogenic ALMS1 variant (0.0022361). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000460969 SCV000554305 likely benign Alstrom syndrome 2016-04-16 criteria provided, single submitter clinical testing

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