ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.1427G>A (p.Arg476Gln) (rs142164846)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000393639 SCV000332736 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765602 SCV000896925 uncertain significance Schimke immuno-osseous dysplasia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765602 SCV001215068 uncertain significance Schimke immuno-osseous dysplasia 2020-09-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 476 of the SMARCAL1 protein (p.Arg476Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs142164846, ExAC 0.06%). This variant has been observed in individual(s) with Schimke immuno-osseous dysplasia (PMID: 22998683, 17089404). ClinVar contains an entry for this variant (Variation ID: 281764). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Natera, Inc. RCV000765602 SCV001455764 uncertain significance Schimke immuno-osseous dysplasia 2020-09-16 no assertion criteria provided clinical testing

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