ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met)

dbSNP: rs745349150
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232045 SCV001404589 uncertain significance Schimke immuno-osseous dysplasia 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 781 of the SMARCAL1 protein (p.Val781Met). This variant is present in population databases (rs745349150, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 958811). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV001232045 SCV002780541 uncertain significance Schimke immuno-osseous dysplasia 2022-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563771 SCV003607080 uncertain significance Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing The c.2341G>A (p.V781M) alteration is located in exon 15 (coding exon 13) of the SMARCAL1 gene. This alteration results from a G to A substitution at nucleotide position 2341, causing the valine (V) at amino acid position 781 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001232045 SCV002076326 uncertain significance Schimke immuno-osseous dysplasia 2020-01-17 no assertion criteria provided clinical testing

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