ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.173G>C (p.Gly58Ala)

dbSNP: rs1008942429
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044418 SCV001208216 uncertain significance Baller-Gerold syndrome 2023-01-30 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. ClinVar contains an entry for this variant (Variation ID: 842069). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 58 of the RECQL4 protein (p.Gly58Ala).

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