ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys)

gnomAD frequency: 0.00003  dbSNP: rs749020872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002504579 SCV002814225 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 2022-04-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001357418 SCV004237339 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001357418 SCV005833457 likely benign not provided 2024-04-12 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357418 SCV001552886 uncertain significance not provided no assertion criteria provided clinical testing The SLC4A1 p.Arg180Cys variant was not identified in the literature nor was it identified in the ClinVar, Cosmic, or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs749020872) and in control databases in 4 of 251450 chromosomes at a frequency of 0.000016 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 1 of 16256 chromosomes (freq: 0.000062), Latino in 1 of 34590 chromosomes (freq: 0.000029) and European (non-Finnish) in 2 of 113750 chromosomes (freq: 0.000018); it was not observed in the Ashkenazi Jewish, East Asian, European (Finnish), Other, and South Asian populations. The p.Arg180 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. In silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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