ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.217C>A (p.Leu73Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003491513 SCV004237355 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005022003 SCV005642263 uncertain significance BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 2024-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003491513 SCV005767886 uncertain significance not provided 2025-01-14 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 73 of the SLC4A1 protein (p.Leu73Met). This variant is present in population databases (rs781490287, gnomAD 0.01%). This missense change has been observed in individual(s) with hereditary spherocytosis (PMID: 9012689). ClinVar contains an entry for this variant (Variation ID: 2690024). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SLC4A1 protein function with a negative predictive value of 80%. 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.

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