ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.818C>T (p.Ala273Val)

dbSNP: rs1349749745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237484 SCV001410245 uncertain significance Baller-Gerold syndrome 2019-07-04 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RECQL4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 273 of the RECQL4 protein (p.Ala273Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Ambry Genetics RCV002563891 SCV003665476 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.818C>T (p.A273V) alteration is located in exon 5 (coding exon 5) of the RECQL4 gene. This alteration results from a C to T substitution at nucleotide position 818, causing the alanine (A) at amino acid position 273 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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