ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2045C>T (p.Ser682Phe)

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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 RCV005068410 SCV005706831 uncertain significance not provided 2024-06-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 682 of the SLC4A1 protein (p.Ser682Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC4A1-related conditions. 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 expected to disrupt SLC4A1 protein function with a positive 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.
Ambry Genetics RCV005269128 SCV005946288 uncertain significance Inborn genetic diseases 2025-03-06 criteria provided, single submitter clinical testing The c.2045C>T (p.S682F) alteration is located in exon 16 (coding exon 15) of the SLC4A1 gene. This alteration results from a C to T substitution at nucleotide position 2045, causing the serine (S) at amino acid position 682 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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