ClinVar Miner

Submissions for variant NM_006947.4(SRP72):c.620G>A (p.Arg207His)

gnomAD frequency: 0.00004  dbSNP: rs387907189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001852568 SCV002131151 uncertain significance not provided 2023-04-28 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on SRP72 function (PMID: 22541560). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SRP72 protein function. ClinVar contains an entry for this variant (Variation ID: 31660). This missense change has been observed in individual(s) with clinical features of SRP72-related conditions (PMID: 22541560). This variant is present in population databases (rs387907189, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 207 of the SRP72 protein (p.Arg207His).
OMIM RCV000024353 SCV000045646 pathogenic Autosomal dominant aplasia and myelodysplasia 2012-05-04 no assertion criteria provided literature only

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