ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1007G>A (p.Arg336Gln)

gnomAD frequency: 0.00004  dbSNP: rs759529143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816011 SCV000956497 uncertain significance Renal carnitine transport defect 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 336 of the SLC22A5 protein (p.Arg336Gln). This variant is present in population databases (rs759529143, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 659070). 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) performed at Invitae indicates that this missense variant is not expected to disrupt SLC22A5 protein function. 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. RCV000816011 SCV001462817 uncertain significance Renal carnitine transport defect 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003892745 SCV004713868 uncertain significance SLC22A5-related disorder 2023-12-10 no assertion criteria provided clinical testing The SLC22A5 c.1007G>A variant is predicted to result in the amino acid substitution p.Arg336Gln. This variant was reported, along with a second variant, in an individual with congenital myopathy, hypotonia, motor development delay and hypotonia (Ganapathy et al 2019. PubMed ID: 31069529). This variant is reported in 0.0085% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-131724668-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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