ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2171C>T (p.Ala724Val)

gnomAD frequency: 0.00001  dbSNP: rs1553201577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507977 SCV000605114 uncertain significance not specified 2016-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000815762 SCV000956232 uncertain significance Shprintzen-Goldberg syndrome 2018-07-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with SKI-related disease. ClinVar contains an entry for this variant (Variation ID: 440269). While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces alanine with valine at codon 724 of the SKI protein (p.Ala724Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.

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